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Rohit Agrawal
This healthy 17YO female presented for a routine ophthalmic examination. There were no ocular complaints or ocular family history. Vision was 20/20 OU.
Optos color RG imaging shows symmetrical multiple discrete yellow-white flecked lesions that spare the maculas. On OCT, the flecks appear as hyperreflective outer retinal deposits that extend into and distort the overlying ellipsoid zone. These lesions markedly hyperautofluoresce.
Learning Points:
Initially reported by Aish and Dajani (BJO 1980;64;652-659), benign familial fleck retina (BFFR) is an extremely rare autosomal recessive disorder in a heterogeneous group of flecked retina syndromes. The BFFR gene encodes for a group V phospholipase A2 (PLA2G5). Despite the dramatic fundus appearance, affected individuals have normal acuity, visual fields, and retinal function, including electrophysiology.
Other flecked retinal disorders include fundus albipunctatus, fundus flavimaculatus, familial drusen, retinitis punctata albescens, and fleck retina of Kandori. These disorders can cause night blindness, central visual problems, abnormal ERG, and abnormal perimetry. The ERG helps distinguish BFFR from other flecked retina syndromes such as retinitis punctata albescens and fundus albipunctatus, as scotopic ERG responses are decreased in the latter conditions but normal in BFFR.
Retin Cases Brief Rep. 2026 Sep 1;20(5):607-611. doi: 10.1097/ICB.0000000000001943.
BDUMP: Intravitreal methotrexate and rituximab Ongoing injections well-tolerated, improved foveal thickness, and fluid — Retrospective, 5 eyes (3 patients)
Purpose: To investigate the utility of intravitreous methotrexate and rituximab in the treatment of Bilateral Diffuse Uveal Melanocytic Proliferation (BDUMP).
Methods: The observational cohort study of five eyes of three patients with BDUMP receiving combination injections of intravitreous methotrexate 400 mcg/0.05 mL and rituximab 1 g/0.1 mL as part of multimodal treatment of BDUMP. Change in central foveal thickness and subfoveal fluid was obtained by optical coherence tomography, and change in logMAR/Snellen vision was compared before and after each injection and over the follow-up duration.
Results: Five eyes of three male patients with BDUMP received 39 combination injections of intravitreous methotrexate and rituximab. The median follow-up period was 48.2 months; all eyes exhibited a decrease in central foveal thickness and subfoveal fluid and an improvement in vision at some point from baseline. The median/mean vision increase was 5/3.4 Snellen lines, decrease in central foveal thickness was 243/235 μ m, and decrease in subfoveal fluid was 240/273 μ m. Over the follow-up period, one eye had a gradual decline in vision from 20/40 to 20/150 over 48 months Four of the 5 eyes had marked improvement and sustained vision: from vision ranging 20/50 to 20/150 at baseline to all 4 improving to 20/25 or 20/20.
Conclusion: Intravitreous methotrexate and rituximab may be a useful, well-tolerated adjunctive treatment for BDUMP. Improvements in central foveal thickness and subfoveal fluid were noted following injections and over the follow-up period. Unlike the often, rapid decline in vision that is expected of this paraneoplastic disease, the eyes in this cohort appeared to have more favorable outcomes.
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