Clinical Evaluation of Isolated ROA1 Family

Four out of the five sibs of the ROA1 family (Figure 4.3) were affected with an isolated, early-onset but slowly progressive optic neuropathy. Between 2 and 6 years of age, all patients complained of a visual impairment that could not be corrected by glasses. At age 10, fundus examination, fluorescein angiography, visual field testing, colour vision analysis and electrophysiological recordings of individual V2, led to the diagnosis of optic atrophy without retinal degeneration. The three younger sibs displayed the same phenotype (Figures 4.1 and 4.2). In all affected sibs, the progression of the disease was very slow (visual acuity ranging from 1/10 to 2/10 for distant vision at 36 < age of patients < 45 years old). Moderate photophobia and dyschromatopsia with red-green confusion was noted. None of the four patients had nystagmus. Both parents (IV1 and IV2), and V1 underwent complete ophthalmologic exploration and no symptom of optic neuropathy was noted. A normal ocular pressure was measured for all members of the family, as well as a normal cup/disc ratio of the optic disk. Neurological examination failed to reveal any developmental failure, pyramidal or extra pyramidal signs, ataxia or hearing loss. Furthermore, no alopecia, diabetes or any malformation was noted, allowing the exclusion of all known syndromes associated with ROA.

Figure 4.1. Visual field and colour vision testings in normal control and patient V4 (age = 32 years).

A) Dynamic perimetry using a Goldman apparatus to test the visual field. The visual field of the patient is almost normal, except for the existence of a relative and partial scotoma at II1. B) Colour vision was tested using the D-15 Farnsworth's panel. The circling line on the left indicates that the normal individual was able to harmoniously classify the D colour chips 15 while the patient made a disorganized classification with confusion in the red-green axis.

Figure 4.1. Visual field and colour vision testings in normal control and patient V4 (age = 32 years).

A) Dynamic perimetry using a Goldman apparatus to test the visual field. The visual field of the patient is almost normal, except for the existence of a relative and partial scotoma at II1. B) Colour vision was tested using the D-15 Farnsworth's panel. The circling line on the left indicates that the normal individual was able to harmoniously classify the D colour chips 15 while the patient made a disorganized classification with confusion in the red-green axis.

The four patients were born to healthy second-cousins (Figure 4.3). This consanguinity associated with i) the existence of a common affected ancestor, ii) the absence of any affected individual in the common branch, ruling out autosomal dominant inheritance with incomplete penetrance, iii) the transmission of the disease gene through four healthy men (II2, III2, III3, and IV3), ruling out X-linked inheritance and iv) the affected male-female ratio of 1, strongly support the conclusion of autosomal recessive inheritance.

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