Optic nerve hypoplasia with isolated tortuosity of the retinal veins: a marker of endocrinopathy.

OBJECTIVE To investigate whether children with optic nerve hypoplasia and pituitary hormone insufficiencies have specific ocular fundus characteristics that may facilitate early diagnosis and treatment. DESIGN From May 15, 1995, through December 15, 1997, 17 children (8 girls and 9 boys, aged 0.3 to 13 years) with optic nerve hypoplasia were referred to the Department of Pediatric Ophthalmology, Children's Hospital, Göteborg, Sweden, and divided into 2 groups dependent on the presence (n = 8) or absence (n = 9) of pituitary deficiency. Morphological characteristics of the ocular fundus were evaluated by digital image analysis of fundus photographs, and the morphological characteristics of the brain structures were studied by magnetic resonance imaging. RESULTS An isolated venous tortuosity noted among the children with optic nerve hypoplasia and endocrinopathy was the morphological ocular fundus variable that discriminated between the 2 groups of patients with optic nerve hypoplasia. Both groups of children demonstrated significantly reduced optic disc, cup, and neuroretinal rim area and few vascular branching points. CONCLUSION Optic nerve hypoplasia with isolated tortuosity of the retinal veins may potentially help the ophthalmologist in identifying children who should undergo a thorough diagnostic workup of endocrine function.