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Kevin Cronin, Sandeep Grover; Spectral-Domain Optical Coherence Tomography (Spectralis) and Fundus Autofluorescence Findings in Foveal Hypoplasia. Invest. Ophthalmol. Vis. Sci. 2014;55(13):5935.
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Foveal hypoplasia (FH) is a rare condition characterized clinically by poor visual acuity, nystagmus, blunted or absent foveal reflex and poorly-defined foveal area with retinal vessels present too close to the fovea. FH can be present in conjunction with albinism or aniridia or can be an isolated finding. With the advent of newer techniques like spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF), FH can be easily diagnosed. In the present case series, we describe the characteristic SD-OCT and FAF findings in this condition.
In this retrospective case series, 9 patients with FH were identified and their charts reviewed. In 2 patients, FH was associated with albinism and was an isolated finding in 7 patients. The SD-OCT and FAF (both Spectralis, Heidelberg Engineering, Germany) records were reviewed. SD-OCT findings included ‘absence of foveal pit’ and ‘shallow foveal pit’. FAF findings included ‘absence’ or ‘attenuation’ of foveal hypoautofluorescence. This was correlated with the best -corrected visual acuity.
‘Absence of a foveal pit’ was documented in one patient. ‘Shallow foveal pits’ were seen in the other 8 patients. The FAF was variably attenuated in all patients. The visual acuity seemed to correlate with the extent of foveal blunting on SD-OCT but because of a small number of patients, a statistical analysis could not be performed.
The morphologic features of foveal hypoplasia are described by ‘Spectralis’ SD-OCT and FAF. In patients with isolated foveal hypoplasia, these two tests can be excellent tools for the diagnosis of this condition.
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