History of Present Illness
A 4-month-old female baby was referred for an ophthalmologic evaluation. The baby was delivered via C-section at 36 weeks in a public maternity hospital in Recife, the capital of Pernambuco state, in the northeast of Brazil. Physical examination at birth revealed severe microcephaly with partially collapsed skull (head circumference: 27 cm and birth weight: 2324 grams).
Initial Examination at 4 Months
Exam
| OD | OS | |
|---|---|---|
| Visual acuity (Teller visual acuity cards) | 0.32 cy/cm at 38 cm | 0.43 cy/cm at 38 cm |
| Pupillary reflexes | Sluggish | Sluggish |
| Extraocular muscles (EOM) | Normal | Normal |
| Nystagmus | Absent | Absent |
| Anterior segment | Unremarkable | Unremarkable |
| Retina | Figs. 66.1, 66.2, and 66.3 | Figs. 66.1, 66.2, and 66.3 |
(A and B) Fundus photograph of both eyes showing optic nerve hypoplasia, pallor, and increased disc cupping and a chorioretinal scar with gross pigment mottling in the macular region.
(A and B) Spectral domain optical coherence tomography images of both eyes showed severe neurosensory retina loss with discontinuation of the ellipsoid zone (IS/OS junction), a hyperreflectivity underlying the retinal pigment epithelium (RPE), and choroidal thinning. A colobomatous-like excavation was observed in the affected retina, RPE, and choroid.
