Management of aggressive posterior retinopathy of prematurity in oculocutaneous albinism

Abstract

A male infant, born preterm at 32 weeks of gestation, was referred at 36-week postmenstrual age for retinopathy of prematurity (ROP) screening. He had nystagmus, generalised hypopigmentation of skin, hair and eyes with preaxial polydactyly. The fundus was depigmented with prominently visible choroidal vessels. The retinal vessels were dilated, tortuous at zone 1. There was presence of arcading, shunting of vessels with presence of vitreous haemorrhage in the left eye. A diagnosis of aggressive posterior retinopathy of prematurity (APROP) in association with oculocutaneous albinism (OCA) was made.Half-dose intravitreal bevacizumab was used to treat the vascular condition. After 2 weeks, there was complete regression of APROP with a completely mature retina observed at 4 months post-treatment. Herein, we describe the role of red-free light for screening ROP in infants with OCA; challenges in the management of ROP with laser photocoagulation compared with intravitreal anti-vascular endothelial growth factor therapy.

Keywords: congenital disorders; neonatal and paediatric intensive care; ophthalmology; paediatrics; retina.

Figure 1

External face and hand photo showing hypopigmented hair and skin (A), normal fingers in the right hand (B) and extra finger on radial side in the left hand (C, arrow).

Figure 2

Wide-field fundus photograph at presentation showing zone 1 dilated and minimally tortuous retinal vessels with arcading and looping in the right and left eyes, respectively (A (arrow) and C), retinal haemorrhages in the left eye (C) with corresponding red-free fundus images (B and D). After 5 days, dilatation and tortuosity had increased in the right eye with arcading and looping of vessels at different levels (E) and corresponding red-free fundus image (F). The left eye developed vitreous haemorrhage.

Figure 3

Wide-field fundus photograph showing reduced dilatation and tortuosity in zone 2 in the right (A) and left eyes (B), respectively, 2 weeks post-treatment with corresponding red-free fundus images (C, D) and both eyes near mature retina at 6 weeks post-treatment (E, F).