Pigmentary retinal dystrophy associated with peroxisome biogenesis disorder-Zellweger syndrome spectrum

TL;DR

A pediatric patient with mutations in PRPH2 and PEX1 genes developed retinal dystrophy and macular edema, linked to a rare peroxisome disorder called Zellweger syndrome spectrum.

Contribution

This case highlights the combined role of PRPH2 and PEX1 gene mutations in causing pigmentary retinal dystrophy and associated visual impairment.

Findings

The patient's PRD is associated with pathogenic variants in both PRPH2 and PEX1 genes.

Treatment with dexamethasone implants and dorzolamide was used to manage macular edema and visual impairment.

The PEX1 mutation is linked to peroxisome biogenesis disorder-Zellweger syndrome spectrum, contributing to retinal dystrophy.

Abstract

Pigmentary retinal dystrophy (PRD) is a group of inherited disorders involving the progressive degeneration of rod and cone photoreceptors and the retinal pigment epithelium (RPE), which can progress to pigmentary retinopathy (PR). We present a case of PRD in a female pediatric patient who has pathogenic variants in the PRPH2 and PEX1 genes. The patient has associated macular edema and secondary visual impairment. Treatment has included serial dexamethasone intravitreal implant injections and topical dorzolamide. The PEX1 gene mutation is associated with peroxisome biogenesis disorder-Zellweger syndrome spectrum (PBD-ZSS) and resulting retinal dystrophies. The PRPH2 mutation may play a role in macular edema and PRD, as it is implicated in macular degeneration, choroid defects, and photoreceptor dysfunction. In this case, we review multiple gene mutations playing potential etiologic roles for PRD and discuss care management.

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