# Retinal Detachment Accompanied by a Macular Hole in a Patient With ABCA4 and BEST1 Genetic Mutations

## TL;DR

A patient with ABCA4 and BEST1 gene mutations developed retinal detachment and a macular hole, highlighting the link between genetic mutations and eye complications.

## Contribution

This case report highlights a rare combination of ABCA4 and BEST1 mutations leading to retinal detachment and macular hole.

## Key findings

- The patient had retinal detachment and macular hole associated with ABCA4 and BEST1 mutations.
- Postoperative visual acuity remained poor despite surgical intervention.
- The case suggests a possible link between multiple gene variants and macular hole formation.

## Abstract

Inherited macular dystrophies are a heterogeneous group of disorders characterized by loss of central vision due to macular and retinal pigment epithelium atrophy. Mutations include ABCA4 and BEST1 genes, which are found in different conditions such as Stargardt disease, Best disease, and also in age-related maculopathies. We report a case of retinal detachment and macular hole (MH) in a middle-aged patient with both ABCA4 and BEST1 mutations.

A 65-year-old man presented to the emergency room with a 10-day history of floaters, described as a gray curtain, in the left eye (LE). He denied a history of change in vision. The patient has a positive history of gene mutations in both ABCA4 and BEST1 genes, which was diagnosed a couple of years prior with a recorded best corrected visual acuity (BCVA) of 6/60 at that time. On presentation, the ophthalmic examination of the anterior segment was unremarkable in both eyes, with a BCVA of 6/9 and 6/60 in the right eye and LE, respectively. The affected eye showed retinal detachment with the macula off. Additionally, optical coherence tomography of the macula and B scan showed full-thickness MH with retinal detachment. He underwent pars plana vitrectomy with internal limiting membrane peeling. Postoperatively, the BCVA was 6/60.

Inherited retinal dystrophies may be associated with MH formation. Further studies are prudent to understand the pathophysiology of MHs and prevent subsequent complications such as retinal detachment, especially in patients with multiple gene variants.