pISSN: 1011-8942 eISSN: 2092-9382 Korean J Ophthalmol 2012;26(2):143-146 http://dx.doi.org/10.3341/kjo.2012.26.2.143 Case Report Morphological and Functional Correlates in Goldmann-Favre Syndrome: A Case Series Madhavendra Bhandari1, Rajni Rajan1, P. Tandava Krishnan2, Swakshyar Saumya Pal2, Rajiv Raman2, Tarun Sharma2 1Elite School of Optometry, Sankara Nethralaya, Chennai, Tamil Nadu, India 2Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, Tamil Nadu, India The purpose of this study is to describe the correlation of findings between results from spectral domain optical coherence tomography (SD-OCT) and microperimetry in a case series regarding patients with Goldmann-Favre syndrome. Goldmann-Favre syndrome is a rare autosomal recessive hereditary vitreo-retinal degeneration that impacts the functionality of vision in subjects. Three men with this condition were assessed and subjected to microperimetry and SD-OCT. Two of the men were brothers. This study finds that the retinoschisis and macular cystoid changes noted in the SD-OCT matched the scotomas revealed by the microperimetry. The findings of each of the individual cases are reported herein. Key Words: Cystoid macular edema, Microperimeter, Retinoschisis, Spectral domain optical coherence tomography Goldmann-Favre syndrome is an autosomal recessive hereditary vitreo-retinal degeneration characterized by impaired visual acuity, nyctalopia, vitreous degeneration, atypical peripheral pigmentary dystrophy, and peripheral and macular retinoschisis [1-3]. Typically, macular retinos- chisis has a characteristic microcystic appearance on oph- thalmoscopy, even without fluorescein staining on angiog- raphy [4]. Macular retinoschisis is allelic with enhanced S cone syndrome. Both conditions are caused by mutations in the nuclear receptor gene NR2E3 on chromosome 15 [5]. Manifestation of the mutations, however, may not be detected in all cases. Case Reports Case 1 A 21-year-old male presented with a progressive decrease Received: April 13, 2010 Accepted: August 20, 2010 Corresponding Author: Madhavendra Bhandari, M Phil Opt. Elite School of Optometry, Sankara Nethralaya, Chennai-600 016, Tamil Nadu, India. Tel: 91-044-2234474, 22349269, Fax: 91-044-28254180, E-mail: madhav- endra_opto@yahoo.co.in in vision that had begun at the age of 8 years. His brother was known to have the same problem. The patient’s best corrected visual acuity, with +4.00 DS / -0.50 DC × 180, was counting fingers at 50 cm in the right eye, and, with +1.00 DS / -1.50 DC × 20, was 6 / 24 in the left eye. The anterior segment examination was unremarkable. Indirect ophthalmoscopy revealed multiple vitreous membranes, peripheral vitreous detachment, peripheral retinal epithe- lial alterations, pigment clumping, equatorial chorioretinal atrophy inferior to the macula, lamellar macular holes, and foveal microcystic spaces in the patient’s right eye. Lattice degeneration at the 6 o’clock position was also observed in the left eye. A diagnosis of Goldmann-Favre syndrome was made. Time domain (Stratus) optical coherence tomography demonstrated confluent macular cystoid changes, as well as foveal retinoschisis in both eyes, with macular holes in the right eye. During electroretinogram evaluation, iso- lated rod responses were unrecordable for the right eye, and showed delayed implicit time with grossly reduced amplitude in the left eye. Maximal combined responses showed a negative b-wave. Oscillatory potentials were flat in both eyes. Isolated cone responses showed delayed implicit time with reduced amplitudes in both eyes. There © 2012 The Korean Ophthalmological Society This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses /by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. 143