Clinical findings of five patients with superior segmental optic hypoplasia
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5* | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| *Daughter of patient 4. | ||||||||||
| IAD = inferior altitudinal defect; ITD = inferotemporal defect; CRA = central retinal artery; RNFL = retinal nerve fibre layer. | ||||||||||
| Age (years), sex | 24, male | 24, male | 45, female | 44, female | 10, female | |||||
| Family history | − | − | − | + | + | |||||
| Neurological disease | − | − | − | − | − | |||||
| Maternal diabetes mellitus | − | − | + | + | + | |||||
| Laterality | unilateral | unilaeteral | bilateral | unilaeteral | bilateral | |||||
| Visual symptoms | − | − | − | − | − | |||||
| R | L | R | L | R | L | R | L | R | L | |
| Visual acuity | 20/20 | 20/20 | 20/20 | 20/20 | 20/20 | 20/20 | 20/20 | 20/20 | 20/20 | 20/20 |
| Refractive errors | −3.0 D | −1.5 D | −6.0 D | −6.0 D | −1.5 D | −1.75 D | +0.5 D | +0.5 D | +0.5 D | +1.0 D |
| Visual field | IAD | normal | normal | IAD | ITD | ITD | normal | ITD | IAD | IAD |
| Ophthalmoscopic findings | ||||||||||
| Superior entrance of CRA | + | − | − | + | + | + | − | + | + | + |
| Loss of superior RNFL | + | − | − | + | + | + | − | + | + | + |
| Superior disc pallor | + | − | − | + | + | + | − | + | + | + |
| Superior scleral halo | + | − | − | − | + | − | − | − | − | − |









