Abstract

ABSTRACT Objective: To describe a familial presentation of isolated foveal hypoplasia (FH) with detailed clinico-imaging correlation based on fundus photography and spectral-domain optical coherence tomography (SD-OCT), highlighting the diagnostic value of multimodal imaging in this rare condition. Methods: A 22-year-old male proband and his younger sister underwent complete ophthalmic evaluation including best-corrected visual acuity (BCVA), slit-lamp biomicroscopy, dilated fundus examination, Topcon Maestro2 SD-OCT with radial macular scanning protocol, and whole-exome molecular genetic testing. Results: BCVA was 20/200 bilaterally in the proband. Fundus photography revealed absence of the foveal reflex in both eyes, with an incidental chorioretinal lesion in the left eye. SD-OCT demonstrated absent foveal pit with diffuse macular thickening (OD mean 259.9 µm; OS mean 279.6 µm) and persistence of inner retinal layers over the foveal center bilaterally, consistent with Grade 3 FH. A pathogenic FRMD7 gene variant was identified on whole-exome sequencing. His sibling harbored the same variant in heterozygous form. Conclusions: Multimodal imaging – combining fundus photography with SD-OCT macular thickness mapping – provides objective, quantifiable documentation of foveal maldevelopment and enables grading that guides prognosis and counseling in familial FH.

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