Microphthalmia-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome: Case Report

Published 2022 - 40th Congress of the ESCRS

Reference: PO075 | Type: ESCRS 2022 - Posters | DOI: 10.82333/292p-5k29

Authors: Laura Modamio-Gardeta* ¹ , Raquel Belillas-Nuñez ¹ , Marta Gonzalez-Espina ¹ , Javier Orduña-Azcona ¹ , Ana Guadilla-Borras ¹ , Elena Casas-Maroto ¹ , Nadia Minguez-Caro ¹

¹Ophthalmology,Hospital Universitario Infanta Cristina,Madrid,Spain

Purpose

To present the case of a patient with posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen and to highlight the clinical features revealed by anterior segment optical coherence tomography (AS-OCT), corneal topography and anterior segment photography.

Setting

Hospital Universitario Infanta Cristina. Department of Ophthalmology. Madrid, Spain.

Methods

A 56 year old male from Romania was referred to our Department of Ophthalmology referring reduced visual acuity and progressive nyctalnopia. He referred two siblings with high hyperopia and poor visual acuity too. A complete visual exam was performed using slit lamp biomicroscopy, auto refractometry, campimetry, gonioscopy, anterior segment and posterior optical coherence tomography (OCT), corneal topography, optical biometry, ocular ultrasound (US), electroretinography (ERG) and anterior and posterior segment images. The patient underwent genetic testing to detect mutations that may be responsible for this particular disease.

Results

The patient presented bilateral shortening of the posterior ocular segment (axial length of 17.13 mm in the right eye and 17.06 mm in the left eye) associated with high hyperopia and extremely shallow anterior chambers measured by AS-OCT, optical biometry, corneal topography and gonioscopy. Bilateral peripheral iridotomies were performed to reduce the risk of acute-angle glaucoma.

Best-corrected visual acuity was 20/2000 in both eyes. Funduscopy and ERG were compatible with retinitis pigmentosa, and B-mode US showed optic disk drusen in his right eye. Posterior OCT analysis showed a foveal schisis and campimetry revealed a severe concentric visual field loss in both eyes.

The results of the genetic testing have not yet been received

Conclusions

Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder. Different forms of mutations on chromosomes 11 and 14 have been identified as being responsible for the appearance of this syndrome. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and, on occasion, acute-angle glaucoma due to shallow anterior chambers.

Its diagnosis requires a complete ophthalmologic examination including different imaging tests that can help identify and document the findings in this rare disorder.