Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis
Table 1
Clinical characteristics of male twins affected by Leber congenital amaurosis.
Family ID
Patient
Age at onset (months)
Age at first visit (months)
Current age (months)
Follow-up duration (months)
Gender
Origin
Inheritance pattern
Primary symptom
Night blindness
Photophobia
Nystagmus
Hyperopia
Refraction (diopters)
ERG
Fundus abnormalities
Right eye
Left eye
Right eye
Left eye
LCA1H
Twin 1 (II-1)
3
11
29
18
Male
Hamamatsu, Japan
ar
No ocular pursuit
ā
+
+
+
+3.00
+3.25
NR
NR
Mild RPE changes around disc. Slight retinal vessels narrowing.
Twin 2 (II-2)
3
11
29
18
Male
Hamamatsu, Japan
ar
No ocular pursuit
ā
+
+
+
+6.00
+5.00
NR
NR
Mild RPE changes around disc. Slight retinal vessels narrowing.
Age at onset was based on medical history; age at first visit was based on medical records. All clinical data were obtained from recent examinations. ar: autosomal recessive; ERG: electroretinogram; NR: nonrecordable; RPE: retinal pigment epithelium.
