Dario Pasquale Mucciolo | Università degli Studi di Firenze (University of Florence) (original) (raw)

articles by Dario Pasquale Mucciolo

Purpose:To evaluate the correlation between Best Corrected Visual Acuity (BCVA) and the following... more Purpose:To evaluate the correlation between Best Corrected Visual Acuity (BCVA) and the following parameters in Stargardt Disease (STGD): Central Retinal Thickness (CR-T), Central Outer Nuclear Layer Thickness (C-ONL-T), Areas of macular Photoreceptor loss (PHRa), and Retinal Pigment Epithelium (RPE) loss (RPEa).Methods:A total of 64 eyes of 32 STGD patients were included in the study. All patients received a comprehensive ophthalmological examination, color fundus photographs, fundus auto-fluorescence imaging, and Optical Coherence Tomography (OCT). The CR-T and C-ONL-T were evaluated from standard SD-OCT scans. The PHRa and RPEa were calculated from enface OCT scans (sub RPE slab and photoreceptor slab). The collected OCT parameters were evaluated for possible association with BCVA.Results:The mean macular PHRa and RPEa was 16.16 ± 13.36 and 12.05 ± 12.57 mm2 respectively. The mean CR-T measured 120.78 ± 41.49 μm while the mean C-ONL-T was assessed at 4.60 ± 13.73 μm. BCVA showed the highest correlation with the C-ONL-T (r = −0.72; p < 0.001) while there was no correlation with the CR-T (r = −0.17; p = 1.00).Conclusions:Enface OCT permits a rapid and precise quantitative evaluation of the macular PHR and RPE atrophy area in STGD. Nonetheless, the OCT parameter that showed the highest correlation with visual acuity in STGD was the ONL thickness.

Background Photodynamic therapy has revolutionised the treatment of circumscribed choroidal heman... more Background Photodynamic therapy has revolutionised the treatment of circumscribed choroidal hemangiomas. The aim of this report is to report the long-term follow-up of patients affected by circumscribed choroidal hemangioma treated using photodynamic therapy. Materials and Methods We retrospectively reviewed patients affected by circumscribed choroidal hemangioma examined at the Retinal Medical Department at the Eye Clinic in Florence. We studied circumscribed choroidal hemangiomas treated using photodynamic therapy with at least 1 follow-up examination. Verteporfin was administered intravenously for 10 min (6 mg/m2 body surface area). After infusion (5 min), a 689 nm laser was applied with a light dose of 50 J/cm2. Results Ten eyes of 10 patients with circumscribed choroidal hemangioma who underwent Photodynamic therapy were included in our series (2 females and 8 males; average age at diagnosis 47.8 ± 9.3 yrs.; age range: 27–56 years). Five patients (5/10; 50 %) received only the photodynamic treatment whereas 5 patients (5/10; 50 %) also received other treatments (laser photocoagulation, intravitreal injection). On average, the patients received 2 photodynamic treatments (range 1–4). Four patients (4/10, 40 %) had a > 5-year follow-up; (average 4.5 ± 3.7 yrs. range 6 months – 10 years). In 2 patients we identified the “double layer sign” at the optical coherence tomography examination on circumscribed choroidal hemangioma. Conclusions In our series, photodynamic therapy was a safe and effective treatment for circumscribed choroidal hemangioma during long-term follow-up. The double layer sign, which can be detected in several choroidal pathologies, suggests common pathogenetic mechanisms for circumscribed choroidal hemangiomas and central serous chorioretinopathy/polypoidal choroidopathy spectrum disease.

Purpose:To report a case of choroideremia characterized by peripheral retinoschisis with vascula... more Purpose:To report a case of choroideremia characterized by peripheral retinoschisis with vascular abnormalities and vitreous hemorrhage.Observations:A 58-year-old man affected by advanced-stage choroideremia was diagnosed with peripheral retinoschisis in both eyes. Vitreous hemorrhage was present in the right eye with a peculiar clot-like lesion at the periphery. At the 1-year follow-up, the vitreous hemorrhage had reabsorbed and the vascular clot-like lesion in the periphery had almost completely disappeared.Conclusion and importance:We have reported fundoscopic and OCT features of peripheral-acquired retinoschisis with vascular abnormalities in a patient with choroideremia. OCT examination is extremely useful in clinical evaluation of the peripheral retinal alterations in these cases, where the absence of the retinal pigment epithelium and the choriocapillaris pose many diagnostic difficulties.

Purpose:To compare the efficacy between fixed and variable treatment regimens of subthreshold ye... more Purpose:To compare the efficacy between fixed and variable treatment regimens of subthreshold yellow micropulse laser for the treatment of diabetic macular edema.Methods:This is a retrospective, comparative, 12-month study of 39 eyes: 24 eyes received fixed treatment regimen of subthreshold micropulse laser treatment and 15 eyes underwent variable treatment regimen of subthreshold micropulse laser, all eyes were followed up for 12 months. Subthreshold micropulse laser was performed with the following parameters: 100 μm spot size on slit lamp, 5\% duty cycle of 0.2 s, and 250 mW power. To choose the power of the variable treatment regimen of subthreshold micropulse laser group, continuous laser power was titrated to a barely visible burn and then switched to MicroPulse mode, multiplying the test burn power by 4 and using a 5\% duty cycle of 0.2 s. Main outcomes included changes in central macular thickness and best-corrected visual acuity.Results:At baseline, the mean LogMAR best-corrected visual acuity was 0.297 ± 0.431 in the variable treatment regimen of subthreshold micropulse laser group and 0.228 ± 0.341 in the fixed treatment regimen of subthreshold micropulse laser group. At the end of follow-up, the mean LogMAR best-corrected visual acuity was 0.289 ± 0.473 (p = 0.785) and 0.245 ± 0.376 (p = 0.480) in the variable and fixed treatment regimens of subthreshold micropulse laser groups, respectively. Similarly, central macular thickness decreased in both groups after treatment; at baseline, the mean central macular thickness was 371.06 ± 37.8 in the variable treatment regimen of subthreshold micropulse laser group and improved to 325.60 ± 110.0 μm (p = 0.025) at the end of the follow-ups, while it was 342.30 ± 35.4 in the fixed treatment regimen of subthreshold micropulse laser group and improved to 308.51 ± 67.5 (p = 0.037).Conclusion:Both treatment regimens are effective for the treatment of mild center-involving diabetic macular edema: fixed treatment appears more suitable minimizing treatment time and reducing the possible errors due to wrong titration in the switch from continuous to micropulse mode.

\textless}b{\textgreater}{\textless}i{\textgreater}Purpose:{\textless}/i{\textgreater}{\textless}... more \textless}b{\textgreater}{\textless}i{\textgreater}Purpose:{\textless}/i{\textgreater}{\textless}/b{\textgreater} To report peculiar clinical findings in young choroideremia (CHM) patients. {\textless}b{\textgreater}{\textless}i{\textgreater}Methods:{\textless}/i{\textgreater}{\textless}/b{\textgreater} We retrospectively reviewed young (age {\&}{\#}x3c;20 years at the first evaluation) CHM patients examined at the Regional Reference Center for Hereditary Retinal Degenerations at the Eye Clinic in Florence between 2012 and 2018. We took into consideration patients with ophthalmological examinations, fundus color photographs, fundus autofluorescence (FAF) images, optical coherence tomography (OCT) scans, full-field electroretinograms, and Goldmann visual fields. {\textless}b{\textgreater}{\textless}i{\textgreater}Results:{\textless}/i{\textgreater}{\textless}/b{\textgreater} In our series, we studied 8 young CHM patients (average age 13.8 years, median age 12.5, range 10–20) for a total of 16 eyes. Visual acuity (VA) was 20/20 in 7 patients and 20/25 in both eyes of 1 patient. We identified a peculiar central FAF pattern (detectable in 3 patients), characterized by reduced central hypo-autofluorescence. Long OCT scans showed different forms of parapapillary retinal involvement from the mildest to the most severe form when the macula is still preserved. In 3 patients, at the time of atrophic changes at the posterior pole, it was possible to detect a progressive reduction of foveal pigmentation during follow-up. We found mutations of the {\textless}i{\textgreater}CHM{\textless}/i{\textgreater} gene in all 6 patients who had been screened. {\textless}b{\textgreater}{\textless}i{\textgreater}Conclusions{\textless}/i{\textgreater}{\textless}/b{\textgreater}: CHM is a progressive retinal disorder which involves both the peripheral and the central retina. Using a multimodal imaging approach, we described peculiar central abnormalities underlying the early involvement of the central retina in young CHM patients with a good VA.

To evaluate the clinical phenotype of autosomal recessive NR2E3-related retinal dystrophy.

Graefe's Archive for Clinical and Experimental Ophthalmology, 2020

Purpose To evaluate the retinal features of elderly patients affected by pseudoxanthoma elasticum... more Purpose To evaluate the retinal features of elderly patients affected by pseudoxanthoma elasticum (PXE). Materials and methods This is a retrospective case series of 62 eyes of 31 elderly PXE patients (age > 50 years). Clinical data, ultra-widefield fundus imaging (color, red-free (RF), infra-red imaging (IR), fundus autofluorescence (FAF)), and OCT examinations were collected. Diagnosis was confirmed by genetic testing or skin biopsy. Results Thirty-one patients (10 males and 21 females (mean age 61.3 years, range 50–74 years)) were included in our study. Visual acuity ranged from 20/20 Snellen equivalent to 20/200. The mean follow-up was 66.4 ± 20.7 months (range 10–88). Pattern dystrophy-like changes (PD) (52 eyes of 26 patients, 83.8%) and atrophy resembling the “diffuse trickling” pattern described in geographic atrophy were present in the majority of patients. Twenty-three eyes of 12 patients (67.6%) had peripapillary atrophy, 9 eyes of 5 patients (26.4%) macular atrophy, 6 eyes of 3 patients (17.6%) displayed posterior pole atrophy and in 6 eyes of 3 patients (17.6%), atrophy could be detected beyond the vascular arcades (mid-peripheral atrophy). End-stage atrophy covered the entire area indicated as “coquille d’oeuf” (eggshell). Choroidal neovascularization occurred in 49 eyes of 26 patients (94.2%) with PD and in 6 eyes of 3 patients (60%) without PD. Genetic examinations were available for 29 patients (29/31, 93.5%). Conclusions The elderly PXE patients were characterized by pattern dystrophy-like changes with more or less extensive atrophy, progressive over time, which in some cases affected the whole area of the coquille d’oeuf during the course of the disease.

Investigative Opthalmology & Visual Science

Purpose To report choroidal caverns in patients affected by recessive Stargardt disease (STGD1) a... more Purpose To report choroidal caverns in patients affected by recessive Stargardt disease (STGD1) and to investigate its clinical features. Methods Retrospective analysis of STGD1 patients recruited at the Regional Reference Center for Hereditary Retinal Degenerations at the Eye Clinic in Florence from 2012 to 2017. Patients included in the study underwent a complete ophthalmic examination including best-corrected visual acuity, color fundus photography, fundus autofluorescence, optical coherence tomography (OCT) and OCT angiography. Results Eighty-six patients (172 eyes) were included in the study. Twenty-three eyes (13.3%) of 21 patients presented choroidal caverns. The total number of detected choroidal caverns was 63. Choroidal caverns were only present in patients with stage III and IV STGD. Interestingly, patients with choroidal caverns presented larger macular atrophy (20.53 ± 16.9 mm2 vs. 18.11 ± 20.39 mm2), worse visual acuity (1.03 ± 0.29 vs. 0.83 ± 0.26), and a thinner choroidal thickness (245.9 ± 88.7 vs. 266.0 ± 110.5 µm). Conclusions Choroidal caverns are present only in the advanced stage of STGD1, and a possible degenerative origin of the finding has been hypothesized.

Supplemental material, Supplemental_file_1_Relevant_codes-convertito for Use of anti-vascular end... more Supplemental material, Supplemental_file_1_Relevant_codes-convertito for Use of anti-vascular endothelial growth factor drugs for eye disease in Tuscany: Development and test of indicators of treatment intensity by Gianni Virgili, Gian Marco Tosi, Michele Figus, Stanislao Rizzo, Vittoria Murro, Dario Pasquale Mucciolo, Giuseppe Roberto and Rosa Gini in European Journal of Ophthalmology

Supplemental material, Table_4 for Circulating endothelial and progenitor cells in age-related ma... more Supplemental material, Table_4 for Circulating endothelial and progenitor cells in age-related macular degeneration by Dario Pasquale Mucciolo, Rossella Marcucci, Andrea Sodi, Francesca Cesari, Vittoria Murro, Angela Rogolino, Stanislao Rizzo, Betti Giusti, Gianni Virgili, Domenico Prisco and Anna Maria Gori in European Journal of Ophthalmology

Supplemental material, VA_LV_VFQ__Italian_Version_for_publication for The Veterans Affairs Low-Vi... more Supplemental material, VA_LV_VFQ__Italian_Version_for_publication for The Veterans Affairs Low-Vision Visual Functioning Questionnaire-48 (VA LV VFQ-48): Performance of the Italian version by Ilaria Di Maggio, Gianni Virgili, Giovanni Giacomelli, Vittoria Murro, Giovanni Sato, Filippo Amore, Gianfrancesco Maria Villani, Stefania Fortini, Simona Turco, Alfredo Pece, Roberta Rizzo, Alessandro Galan, Lucia Giordani, Dario Pasquale Mucciolo and Laura Nota in European Journal of Ophthalmology

Molecular Vision, Sep 2, 2021

To describe genetic analysis, treatment results, and complications of patients affected by retina... more To describe genetic analysis, treatment results, and complications of patients affected by retinal capillary hemangioblastoma (RCH) in von Hippel Lindau (VHL) syndrome. We collected 17 patients with VHL syndrome, who underwent a molecular test and an ophthalmic evaluation at the Eye Clinic of the University Hospital of Florence from January 2005 to February 2020. We focused on eyes showing RCHs examined using color fundus photographs, fluorescein angiography, and optical coherence tomography. Eight eyes of six patients (6/17; 35%) showed RCHs at the fundoscopic examination. All RCHs were treated with laser therapy. Three eyes underwent episcleral surgery, one eye showing vitreous hemorrhage received three intravitreal (IV) anti-VEGF injections and three cryotherapy procedures, and one eye underwent vitrectomy. In patients with RCHs, five were characterized by a truncating mutation of the VHL protein, and one patient showed a missense mutation. We have reported two VHL mutations not ...

Molecular Vision, 2021

Purpose To describe clinical and genetic features in a series of Italian patients with sector ret... more Purpose To describe clinical and genetic features in a series of Italian patients with sector retinitis pigmentosa (sector RP). Methods Fifteen patients with sector RP were selected from the database of Hereditary Retinal Degenerations Referring Center of Careggi Hospital (Florence, Italy). Eleven patients from five independent pedigrees underwent genetic analysis with next-generation sequencing (NGS) confirmed with Sanger sequencing. The diagnosis of sector RP was based on the detection of topographically limited retinal abnormalities consistent with corresponding sectorial visual field defects. Best-corrected visual acuity (BCVA), fundus color pictures as well as fundus autofluorescence (FAF), spectral domain-optical coherence tomography (SD-OCT), full-field electroretinography (ERG), and 30–2 Humphrey visual field (VF) data were retrospectively collected and analyzed. Results For the 30 eyes, the mean BCVA was 0.05 ± 0.13 logMAR, and the mean refractive error was −0.52 ± 1.89 D. ...

European Journal of Ophthalmology

Purpose: To report a case of choroideremia characterized by peripheral retinoschisis with vascula... more Purpose: To report a case of choroideremia characterized by peripheral retinoschisis with vascular abnormalities and vitreous hemorrhage. Observations: A 58-year-old man affected by advanced-stage choroideremia was diagnosed with peripheral retinoschisis in both eyes. Vitreous hemorrhage was present in the right eye with a peculiar clot-like lesion at the periphery. At the 1-year follow-up, the vitreous hemorrhage had reabsorbed and the vascular clot-like lesion in the periphery had almost completely disappeared. Conclusion and importance: We have reported fundoscopic and OCT features of peripheral-acquired retinoschisis with vascular abnormalities in a patient with choroideremia. OCT examination is extremely useful in clinical evaluation of the peripheral retinal alterations in these cases, where the absence of the retinal pigment epithelium and the choriocapillaris pose many diagnostic difficulties.

Ophthalmic Genetics

ABSTRACT Purpose: To report a long-term follow-up of a CRB1-associated maculopathy. Methods: A ca... more ABSTRACT Purpose: To report a long-term follow-up of a CRB1-associated maculopathy. Methods: A case report. Results: A 47-year-old man was diagnosed with bilateral maculopathy. The clinical picture and the foveoschisis abnormalities present in the right eye were consistent with X-linked retinoschisis. During the follow-up we observed the spontaneous passage from a foveal schitic shape to a cystic profile and then to atrophic maculopathy. Two pathogenic CRB1 mutations were detected and he was subsequently diagnosed with CRB1-associated maculopathy. Conclusions: Our clinical case allowed us to observe three different stages in the natural history of this particular CRB1-associated macular phenotype: a foveoschisis phenotype, cystoid macular abnormalities involving outer and inner retinal layers and macular atrophy. CRB1 mutations may be a rare cause of foveal schisis which progressively evolves in atrophic maculopathy and the clinician should be aware of this unusual macular phenotype.

European Journal of Ophthalmology

American Journal of Ophthalmology

PURPOSE To describe the retinal findings of patients affected by Pseudoxanthoma Elasticum (PXE) u... more PURPOSE To describe the retinal findings of patients affected by Pseudoxanthoma Elasticum (PXE) using a multimodal imaging approach including flood-illumination adaptive optics ophthalmoscopy (AO). DESIGN Retrospective case series MATERIALS AND METHODS: Patients affected by PXE were retrospectively studied. Clinical data, color, infrared and autofluorescence fundus imaging, OCT scans and AO examinations were collected. Furthermore, the photoreceptor count was assessed. PXE diagnosis was confirmed by a positive skin biopsy and/or genetic testing. RESULTS Twenty-one eyes of 18 patients (11 females and 7 males) were included in the study. In 3 patients, both eyes were studied. The mean age at examination was 37 ± 16.4 years (range 11-66) and the mean best-corrected visual acuity (BCVA) was 0.1 ± 0.2 LogMAR (range 0-1). We identified 3 types of angioid streaks (AS) using AO: "crack", "band" and "hypopigmented". The first 2 were very similar and they differed in size; the third type showed specific clinical features. Comet lesions appeared as hyper-reflective round lesions on AO imaging. In all eyes the cone mosaic appeared reduced inside the streaks compared to the neighboring areas (13532.8 ± 1366.5 cones/mm2 vs 16817.1 ± 1263.0 cones/mm2 respectively). CONCLUSION Using AO imaging in PXE-related retinopathy we were able to observe the presence of the photoreceptors within the angioid streaks, differentiate 3 types of angioid streaks, based on size and reflective features, and identify the very small crystalline bodies not identifiable using other retinal imaging techniques.

European Journal of Ophthalmology

Purpose: To evaluate the correlation between Best Corrected Visual Acuity (BCVA) and the followin... more Purpose: To evaluate the correlation between Best Corrected Visual Acuity (BCVA) and the following parameters in Stargardt Disease (STGD): Central Retinal Thickness (CR-T), Central Outer Nuclear Layer Thickness (C-ONL-T), Areas of macular Photoreceptor loss (PHRa), and Retinal Pigment Epithelium (RPE) loss (RPEa). Methods: A total of 64 eyes of 32 STGD patients were included in the study. All patients received a comprehensive ophthalmological examination, color fundus photographs, fundus auto-fluorescence imaging, and Optical Coherence Tomography (OCT). The CR-T and C-ONL-T were evaluated from standard SD-OCT scans. The PHRa and RPEa were calculated from enface OCT scans (sub RPE slab and photoreceptor slab). The collected OCT parameters were evaluated for possible association with BCVA. Results: The mean macular PHRa and RPEa was 16.16 ± 13.36 and 12.05 ± 12.57 mm2 respectively. The mean CR-T measured 120.78 ± 41.49 μm while the mean C-ONL-T was assessed at 4.60 ± 13.73 μm. BCVA sh...

European Journal of Ophthalmology

We described a case of papilledema complicated by peripheral retinal vessels in a 12-year-old boy... more We described a case of papilledema complicated by peripheral retinal vessels in a 12-year-old boy affected by cerebellar astrocytoma. Opportunity to treat with photocoagulation or intravitreal anti-VEGF (vascular endothelial growth factor) injections was discussed with the parents and no treatment was done. After 5 years from surgery, retinal neovascularization was stable without vitreal hemorrhages or retinal complications, more specifically fibrosis of the neovessels increased and leakage phenomena were reduced at the fluorescein angiography. To our knowledge, this is a unique case of papilledema complicated by peripheral retinal vessels in a patient affected by cerebellar astrocytoma.

Photodiagnosis and Photodynamic Therapy

BACKGROUND Photodynamic therapy has revolutionised the treatment of circumscribed choroidal heman... more BACKGROUND Photodynamic therapy has revolutionised the treatment of circumscribed choroidal hemangiomas. The aim of this report is to report the long-term follow-up of patients affected by circumscribed choroidal hemangioma treated using photodynamic therapy. MATERIALS AND METHODS We retrospectively reviewed patients affected by circumscribed choroidal hemangioma examined at the Retinal Medical Department at the Eye Clinic in Florence. We studied circumscribed choroidal hemangiomas treated using photodynamic therapy with at least 1 follow-up examination. Verteporfin was administered intravenously for 10 minutes (6 mg/m2 body surface area). After infusion (5 minutes), a 689 nm laser was applied with a light dose of 50 J/cm2. RESULTS Ten eyes of 10 patients with circumscribed choroidal hemangioma who underwent Photodynamic therapy were included in our series (2 females and 8 males; average age at diagnosis 47.8 ± 9.3 yrs.; age range: 27-56 years). Five patients (5/10; 50%) received only the photodynamic treatment whereas 5 patients (5/10; 50%) also received other treatments (laser photocoagulation, intravitreal injection). On average, the patients received 2 photodynamic treatments (range 1-4). Four patients (4/10, 40%) had a > 5-year follow-up; (average 4.5 ± 3.7 yrs. range 6 months - 10 years). In 2 patients we identified the "double layer sign" at the optical coherence tomography examination on circumscribed choroidal hemangioma. CONCLUSIONS In our series,photodynamic therapy was a safe and effective treatment for circumscribed choroidal hemangioma during a long-term follow-up. The double layer sign, which can be detected in several choroidal pathologies, suggests common pathogenetic mechanisms for circumscribed choroidal hemangiomas and central serous chorioretinopathy/polypoidal choroidopathy spectrum disease.

Ophthalmic Genetics

ABSTRACT Purpose To evaluate the effect of photodynamic therapy and/or intravitreal injections on... more ABSTRACT Purpose To evaluate the effect of photodynamic therapy and/or intravitreal injections on choroidal neovascularization in treatment-naïve patients affected by Best Macular Dystrophy using OCT-A Materials and Methods BMD patients with CNV treated using PDT and/or IV were included in the study. All patients underwent a complete ophthalmological examination, OCT and 3 × 3 mm OCT-A. The OCT-A images were analyzed using an open-source software (ImageJ) to assess the CNV membrane area (CNV-MA), the CNV vessel area (CNV-VA), and vessel density (VD) at the follow-ups (3 months after PDT and 1 month after IV). Results Five eyes of four patients with CNV were included. All eyes received PDT as first-line therapy; 4 eyes underwent more than 1 treatment session: three eyes received 1 IV, whereas one eye had one further PDT. After PDT, the CNV-MA, CNV-VA, and VD quantitative parameters were obtained for four out of five eyes: in three eyes of two patients CNV-MA, CNV-VA, and VD first decreased and then gradually increased during follow-up, whereas in one eye of one patient CNV-MA, CNV-VA, and VD slightly increased. After IV the CNV-MA, CNV-VA, and VD had significantly decreased at the 1-month follow-up in three eyes of three patients. Conclusion OCT-A is an important tool for the diagnosis of both naïve and fibrotic CNV in BMD patients; it is a non-invasive method for the qualitative and quantitative analysis of neovascular lesions during follow-up. Our results have shown a cyclic remodeling of treated CNV in BMD patients using both PDT and IV.

Graefe's Archive for Clinical and Experimental Ophthalmology

To investigate the prevalence and features of cystoid spaces (CS) in patients with confirmed gene... more To investigate the prevalence and features of cystoid spaces (CS) in patients with confirmed genetic diagnosis of choroideremia (CHM) using swept source optical coherence tomography (OCT). We retrospectively reviewed CHM patients examined at the Regional Reference Center for Hereditary Retinal Degenerations at the Eye Clinic in Florence. We took into consideration genetically confirmed CHM patients with ophthalmological and swept source optical coherence tomography (OCT) examinations. The presence/absence and location of cystoid spaces in the retina of each eye were reported. A total of 42 eyes of 21 CHM patients were included in our series. The average age of the patients was 36.5 ± 20.1 (range, 13–73 years). The average best-corrected visual acuity (BCVA) for all patients was 0.63 ± 1.00 logMar (range, 0–2,80). CS were present in 15 eyes of eight patients (8/21, 38%). In all cases, CS were located in inner nuclear layer (INL); in five eyes of three patients, CS were detected also in ganglion cell layer (GCL). CS appeared as microcistoyd abnormalities and were detected in retinal areas characterized by retinal pigment epithelium (RPE) and outer retinal layers atrophy at the transition zone. Cystoid spaces in choroideremia showed peculiar features; they are clusters of small-size extrafoveal degenerative cysts mainly located in inner nuclear layer at the transition zone where outer retinal layers and RPE are severely damaged.

Ophthalmic Genetics

ABSTRACT Purpose: To study near-infrared autofluorescence (NIR-AF) and short- wave autofluorescen... more ABSTRACT Purpose: To study near-infrared autofluorescence (NIR-AF) and short- wave autofluorescence (SW-AF) imaging modalities in young patients affected with choroideremia (CHM). Methods: NIR-AF and SW-AF images, Optical coherence tomography (OCT) and color fundus images were acquired from 3 young CHM patients (6 eyes) enrolled at the Regional Reference Center for Hereditary Retinal Degenerations of the Eye Clinic in Florence. Results: We studied 3 young CHM patients (6 eyes). The mean age of the patients was 17,3 years. Using NIR-AF, patient P1 was characterized by speckled hypo-autofluorescent areas at the posterior pole with a preserved central hyper-autofluorescence while patient P2 and P3 were characterized by a preserved NIR-AF signal only at the fovea. Using SW-AF, patient P1 was characterized by a normal macular autofluorescence and by a speckled FAF pattern involved the vascular arcades while patient P2 and P3 showed well-demarcated hypo-autofluorescence areas involving the posterior pole with a preserved macular autofluorescence. The differences between NIR-AF and SW-AF were more pronounced in advanced stages. In correspondence of preserved NIR-AF, the OCT examination showed regular and continuous outer retinal hyperreflective bands. We observed abnormal RPE/Bruch’s membrane complex and EZ band externally to the NIR-AF signal area. Conclusions: NIR-AF imaging confirms an early RPE involvement allowing us to identify and to quantify the RPE pigment loss in choroideremia. For this reason, NIR-AF imaging can be useful for monitoring the progression of the disease and to study the effect of future treatments