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Nilesh Kumar
This 14YO female has a history of nystagmus and vision loss from oculocutaneous albinism. There was no significant family history. Vision was 20/120 OU.
Color photography shows bilateral marked choroidal hypopigmentation with foveal hypoplasia. No genetic testing or pedigree analysis was performed.
Learning Points:
Albinism is a group of genetic disorders characterized by abnormal melanin production due to faulty amino acid production. Patients have either only eye involvement (ocular albinism) or eye and skin (oculocutaneous albinism). Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked. Ocular findings include strabismus, nystagmus, iris transillumination defects, blonde fundus, and foveal hypoplasia. There are often a higher number of crossed nerve fibers at the optic chiasm.
Ophthalmol Retina. 2026 Aug;10(8):820-832. doi: 10.1016/j.oret.2026.04.020.
EMAP High-resolution OCT of presumed basal laminar deposits and RPE abnormalities. Highly prevalent with distinct phenotypes — Retrospective, 25 patients.
Purpose: To characterize the morphologic spectrum and co-occurrence of basal laminar deposit (BLamD) and abnormal retinal pigment epithelium (RPE) in eyes with extensive macular atrophy with pseudodrusen (EMAP) using high-resolution (hi-res) OCT.
Design: Cross-sectional observational study.
Participants: Forty-eight eyes from 25 patients (13 women, 12 men; mean age, 61.7 ± 3.9 years; range, 53-71 years) with EMAP.
Methods: All participants underwent multimodal imaging, including hi-res spectral-domain OCT, fundus autofluorescence, and swept-source OCT angiography. Morphologic and histologically informed BLamD-like material, RPE abnormalities, subretinal drusenoid deposits (SDDs) over BLamD, and intraretinal hyperreflective foci (IHRF) were assessed categorically as present or absent. Descriptive statistics were used to summarize the overall prevalence and co-occurrence of the various features.
Main outcome measures: Frequency and distribution of OCT-derived structural features associated with RPE-Bruch’s membrane complex alterations and outer retinal atrophy.
Results: Persistent BLamD was identified in 39 of 48 eyes (81.3%), and scalloped BLamD in 31 of 48 eyes (64.6%). Retinal pigment epithelium abnormality was present in 21 of 48 eyes (43.8%), IHRF in 27 eyes (56.3%), and SDD overlying BLamD in 27 of 48 eyes (56.3%). Eyes with scalloped BLamD numerically more frequent showed RPE abnormalities (67.7% vs. 0%), IHRF (71.0% vs. 29.4%), and SDD overlying BLamD (74.2% vs. 23.5%) compared with eyes with persistent BLamD. Eyes with RPE abnormality universally also demonstrated IHRF (100%) and persistent BLamD (95.2%), suggesting that these features may also be markers of RPE distress. Foveal involvement of atrophy was observed in 48.9% of eyes, with irregular RPE observed in 20.8% of eyes, IHRF in 33.3%, BLamD in 91.7%, scalloped BLamD in 45.8%, and SDD overlying BLamD in 37.5%.
Conclusions: hi-res OCT reveals that BLamD and abnormal/spiky RPE are highly prevalent in EMAP. Distinct BLamD phenotypes can be appreciated in EMAP, and scalloped BLamD was frequently associated with RPE abnormality, IHRF, and SDD, suggesting that it is associated with features typically interpreted as more advanced local degeneration. Recognition of these phenotypes may enhance structural staging in EMAP.
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