Delhi Journal of Ophthalmology

Adult Onset Foveo-Macular Vitelliform Dystrophy Variant

Anant Prakash Tripathi, Deepa Sharma 
Department of Ophthalmology, Dr Ram Manohar Lohia Hospital, New Delhi, India

Corresponding Author:

Anant Prakash Tripathi
 MBBS DOMS PGDHA
E-103, Sector 52, Noida, 
Uttar Pradesh, India
Email id: anant.tripathi39@gmail.com

Published Online: 31-JAN-2019

DOI:http://dx.doi.org/10.7869/djo.428

Abstract
Adult onset Foveo-macular vitelliform dystrophy is a relatively uncommon condition and often misdiagnosed. We describe one case of AOFVD, the case underwent a complete ophthalmic examination, fluorescein angiography, systemic evaluation including physical examination and laboratory examination. We did not find any associated systemic disease in our case inspite of extensive investigations.

Keywords :Macular dystrophy, Pattern dystrophy, Hypopigmented macula, Adult onset, Hereditary, Fundus dystrophy

Introduction
Adult onset Foveo-macular vitelliform dystrophy is a condition that presents classically as bilateral symmetrical, greyish yellow round or oval lesions within the macular area. These lesions are mildly elevated and are one-third to half disc diameter in size. The onset of disease is usually between 30 and 50 years of age with variable genetic inheritance, although some have suggested an autosomal dominance inheritance pattern. Patients with AOFVD typically present with symptoms of blurred vision and mild metamorphopsia. Results of diagnostic testing show a normal or mildly subnormal electroretinogram (EOG). Fluorescein angiography (FA) shows a hypofluorescent area corresponding to vitelliform lesion and surrounding ring of hyperfluorescence. Optical Coherence Tomography (OCT) show the vitelliform lesion as being located in the retinal pigment epithelium (RPE) layer or between the RPE and photoreceptor layer.

Case
A 60 year old female patient presented in April 2016 with complaints of diminution of in vision both eyes for 5-6 years. She was diagnosed as a case of central confluent drusen with presbyopia at a private hospital and was prescribed with refractive correction but the condition worsned. Examination of both the eyes showed a Best-corrected visual acuity of 6/12 in the right eye and 6/9 in the left eye with normal adnexa, cornea and conjunctiva, anterior chamber and IOP. Fundoscopy revealed a central confluent drusen with pigmentary dystrophy at the macular area. The Red-free image showed mottled hypopigmented spots in the macular region with 3-4 hyperpigmented spots on the inferior aspect of the lesion (Figure 1-4).
Fluorescein angiography showed a hyperflourescent lesion in the macular region approximately the size of one disc diameter with 3-4 hypofluorescent spots present inferiorly (Figure 5 and 6). The OCT showed a hyporeflective lesion beneath the RPE in both the eyes at the macular region (Figure 7 and 8).
Routine blood investigations showed deranged lipid profile of increased LDL of 114 mg/dl and Kidney function test with increased uric acid (6.7 mg/dl) and alkaline phosphatase (181 U/l).
Electro-oculogram was within normal limits. She was diagnosed as a case of adult onset foveo-macular vitelliform dystrophy and was advised to undergo 6-monthly follow-up for any progression.




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Anant Prakash Tripathi, Deepa SharmaAdult Onset Foveo-Macular Vitelliform Dystrophy Variant.DJO 2019;29:80-82

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Anant Prakash Tripathi, Deepa SharmaAdult Onset Foveo-Macular Vitelliform Dystrophy Variant.DJO [serial online] 2019[cited 2019 Apr 22];29:80-82. Available from: http://www.djo.org.in/articles/29/3/Adult-Onset-Foveo-Macular-Vitelliform-Dystrophy-Variant.html