Case Report

The Diagnostic Role of Multimodal Imaging Techniques in Isolated Foveal Hypoplasia

10.4274/tjo.43799

  • Figen Batıoğlu
  • Sibel Demirel
  • Emin Özmert
  • Betül Bayraktutar
  • Özge Yanık

Turk J Ophthalmol 2017; 47 (5): 306-308 (Accepted Date: 27.07.2016) (Received Date: 04.04.2016)

To report a case of bilateral isolated foveal hypoplasia in which multimodal imaging was used to confirm the diagnosis. Fundus autofluorescence imaging, optical coherence tomography (OCT), and fundus fluorescein angiography were used to describe the typical findings of a patient with isolated foveal hypoplasia. Spectral domain OCT showed absence of foveal depression and persistent inner retinal layers in the fovea. Fundus autofluorescence did not reveal foveal hypoautofluorescence in the presumed foveal area. Clinical diagnosis of foveal hypoplasia may be difficult due to the subtle nature of fundus findings. Fundus autofluorescence imaging may help to diagnose these patients. Foveal hypoplasia should be considered in the differential diagnosis of absence of foveal hypoautofluorescence.

Keywords: Foveal hypoplasia,fundus autofluorescence,optical coherence tomography

Introduction

Isolated foveal hypoplasia (IFH) is a condition in which the fovea is characterized by the absence of foveal depression, pigmentation, and foveal avascular zone.1,2,3 It may occur in isolation or in association with conditions such as albinism, aniridia, retinopathy of prematurity, achromatopsia, microphthalmus, myopia, and incontinentia pigmenti.1,2,3,4,5 No single hereditary pattern has been established for patients with IFH. Reported cases include patients with autosomal dominant and autosomal recessive inheritance patterns as well as sporadic cases.1,6 Some authors described the absence of genes such as PAX6, OCA2, and GPR143, which are associated with ocular albinism in IFH.2

There is wide variability in clinical manifestations of the disease. In most cases, there is decreased visual acuity and an association with nystagmus, and the clinical diagnosis may be difficult due to the subtle nature of fundus findings. Optical coherence tomography (OCT) has been described as a quick and useful tool to confirm the diagnosis of IFH and a grading system based on OCT findings has been developed.6,7 Herein, we report a case of bilateral IFH in which multimodal imaging was used to confirm the diagnosis and we describe the fundus autofluorescence (FAF) pattern.


Case Report

A 14-year old girl was referred to our department with the complaint of non-progressive reduced vision since childhood. Her family and medical history were unremarkable and she was not born prematurely. The best corrected visual acuity was 0.3 in the right eye and 0.4 in the left eye. There was no nystagmus or iris transillumination suggestive of ocular albinism in either eye. Iris and anterior chamber angle were normal with no sign of aniridia. Fundus examination revealed the absence of foveal reflex and macular pigmentation with normal appearance of optic nerve heads. Fluorescein angiography (FA) revealed the absence of capillary-free zone and the intensity of choroidal fluorescence from the macular area was similar to that from other parts of the retina. In addition, the perifoveal capillaries were abnormally close to the presumed foveal area and some crossed the horizontal meridian (Figure 1). Spectral domain OCT (Cirrus High Definition OCT; Carl-Zeiss Meditec) showed an absence of foveal depression and persistent inner retinal layers in the fovea (Figure 2). It also demonstrated the absence of extrusion of plexiform layers, the absence of outer segment lengthening, and the presence of outer nuclear layer widening corresponding to grade 3 foveal hypoplasia as described by Thomas et al.7 FAF imaging did not reveal foveal hypoautofluorescence in the presumed foveal area (Figure 3).


Discussion

A 14-year old girl was referred to our department with the complaint of non-progressive reduced vision since childhood. Her family and medical history were unremarkable and she was not born prematurely. The best corrected visual acuity was 0.3 in the right eye and 0.4 in the left eye. There was no nystagmus or iris transillumination suggestive of ocular albinism in either eye. Iris and anterior chamber angle were normal with no sign of aniridia. Fundus examination revealed the absence of foveal reflex and macular pigmentation with normal appearance of optic nerve heads. Fluorescein angiography (FA) revealed the absence of capillary-free zone and the intensity of choroidal fluorescence from the macular area was similar to that from other parts of the retina. In addition, the perifoveal capillaries were abnormally close to the presumed foveal area and some crossed the horizontal meridian (Figure 1). Spectral domain OCT (Cirrus High Definition OCT; Carl-Zeiss Meditec) showed an absence of foveal depression and persistent inner retinal layers in the fovea (Figure 2). It also demonstrated the absence of extrusion of plexiform layers, the absence of outer segment lengthening, and the presence of outer nuclear layer widening corresponding to grade 3 foveal hypoplasia as described by Thomas et al.7 FAF imaging did not reveal foveal hypoautofluorescence in the presumed foveal area (Figure 3).


Images

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