A new form of syndromic cone dystrophy: First case report of a 21 year old female with cone dystrophy associated with short anagen hair syndrome

Abstract

Purpose: To present a case report of a 21-year-old brazilian female with short anagen hair syndrome and cone dystrophy.

Methods: Ophthalmic examination was performed. Best corrected visual acuity (BCVA) was performed with the Snellen chart, stereoacuity test was done with butterfly stereoacuity test with lea symbols, contrast sensitivity test was assessed with Reichert Clear Chart 2, color vision was evaluated using the Ishihara test (38 plates) and Farnsworth-D15 dichromatous color blindness test, and visual field was tested using Goldmann semiautomatic kinetic perimetry (Octopus 900, Haag-Streit). Additionally, the patient underwent retinography (TRC50DX Topcon), and Spectralis optical coherence tomography - OCT- (Heidelberg Engineering, Inc.). Full field electroretinogram (ffERG) and multifocal electroretinogram (mfERG) were performed (Roland Consult RETIport Science 6.12.5). The following dermatologic tests were done to evaluate the hair dysfunction: hair growth rate test and trichogram.

Results: Clinical examination revealed macular degenaration, with loss of macular brightness. BCVA was 20/63 on the right eye and 20/80 on the left eye. The stereoacuity test was positive starting at 63”. At the contrast sensitivity test, only optotypes with at least 20% of contrast could be noted. The Goldmann perimetry showed preserved peripheral fields, but showed central scotomas on both eyes. At the OCT the central macular thickness was slightly decreased. ffERG and mfERG confirmed the clinical hypothesis showing cone dysfunction with preserved rod function. At the dermatologic evaluation the trichogram exhibited 31.88% of telogen hair (normal value: <20%) and the average hair growth rate was 0.7cm / month, which confirms the anagen hair syndrome hypothesis.

Conclusions: Herein we present a patient showing two dystrophies affecting two different kinds of cells: retinal cones and hair follicles cells. Since this is the first case report exhibiting this association of two very rare dysfunctions, our first hypothesis is that this is most likely a new syndrome with only one cause.

Keywords: 539 genetics • 696 retinal degenerations: hereditary • 648 photoreceptors