Unilateral Retinitis Pigmentosa, Glial Tissue Abnormality, and Microphthalmia in a Young Female Patient: A Case...

This report presents a case of unilateral retinitis pigmentosa (URP) with associated symptoms and microphthalmia in the right eye of a young female patient. A 23-year-old with a previous diagnosis of URP and a constricted visual field in one eye was examined. Slit lamp examination of the right eye revealed a moderate posterior subcapsular and mild nuclear sclerotic cataract, with a clear lens in the left eye. Funduscopic examination of the right eye showed diffuse retinal pigmentary epithelium atrophy with peripheral bone spicule pigmentation, cystoid macular edema, and glial clusters protruding from the optic nerve. Left eye fundoscopy revealed unremarkable retinal findings. Fundus autofluorescence, optical coherence tomography, Humphrey visual field, and full-field electroretinogram testing indicated compatible results with our funduscopic findings of URP. Axial length (AL) measurements and anterior chamber angle assessment by gonioscopy suggested microphthalmia of the right globe. The left eye was shorter than average but within normal limits. Salivary genetic testing revealed genetically sensitized retinae carrying heterozygous variants in the INPP5E, FSCN2, RP1L1, and WFS1 genes. The patient is a carrier of a pathogenic variant of INPP5E, while the significance of the other identified variants is uncertain. This case report showcases the unique presentation of URP, glial tissue abnormality, and microphthalmia, suggesting a potentially shared genetic link between retinal pigmentary degeneration and malformation of other ocular structures. Further study is required to understand any shared genetic and/or proteomic etiology. These discoveries may aid in possible future treatment modalities for retinal cilioretinopathy disease and related disorders.