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Table 1 Patient’s ophthalmological examinations since the age of four

From: New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

Age

Visual Acuity and Visual Field (RE/LE)

Ophthalmoscopy

VEP

Electroretinogram

4years–5years

First symptoms: reduction of VA and central VF. VA: 0.08/0.1 (5years)

VF: central scotomae BE

Macular alteration with spicules BE

NA

NA

10year

NA

NA

Abnormal

RE: scotopic: normal, cones response: lower limit of normality. LE: moderate decline of all responses

12years

VA 0.15/0.15.

VF: Loss of the central 20° and 10° RE and LE respectively, conserved peripheral field

Macular atrophy with pigment accumulation BE

 

NA

  1. BE Both eyes, LE Left eye, NA Not Available, RE Right eye, VA Visual Acuity, VEP Visual Evoked Potentials, VF Visual Field, Yr Years