Abstract
Purpose: :
To describe a family which presented initially with reduction in vision and nystagmus but also had a constellation of associated features including microcephaly lymphoedema and chorioretinal dysplasia.
Methods: :
Case Report and Literature review
Results: :
The proband LG is a male child who presented to the Ophthalmology Department at the age of five months with concerns regarding his visual development. He was born at 38 weeks by spontaneous vaginal delivery to non consanguinous parents. There were no maternal infections during pregnancy, however slow fetal growth was noted. He had one older female sibling who was medically well. His father’s cousin and his father’s maternal grandfather were also known to have nystagmus.On examination, he did not appear to be fixing. He adopted a left head turn. He had a horizontal pendular nystagmus, which dampened on dextroversion. Anterior segment examination was normal. Refraction revealed a significant hypermetropia and astigmatism and he was given this correction. In addition LG had some abnormal facial features and microcephaly. He underwent an Examination under Anaesthetic where it was noted that he had an atrophic lesion and RPE pigmentation on the right side. An MRI brain scan was normal.He was assessed with regards to developmental delay. He had numerous tests including Hgb, Ferritin, Creatinine, TFTs, Fragile X and Chromosome analysis an audiogram and an EEG all of which were within normal limits. He had a reduced head circumference of 42cm (age 4 years and 6 months).At age 4 years and 4 months LG was reviewed together with his younger female sibling PG age 3 months. PG had been referred with concerns regarding vision. On examination PG had a visual acuity of 0.1 BEO on Cardiff Cards. She had microcephaly and horizontal pendular nystagmus. Anterior segment examination was normal. Refraction revealed significant hypermetropia and astigmatism. Her retina had extensive chorioretinal atrophy.Both siblings were referred to a Clinical Geneticist for an opinion. They had evidence of pedal lymphoedema on examination. This together with the findings of microcephaly and chorioretinal atrophy gave the diagnosis of Microcephaly Lymphoedema Chorioretinal dysplasia syndrome. They remain under investigation with regards to the exact causative mutation.
Conclusions: :
Our family had the typical features of Microcephaly Lymphedema and Chorioretinal Dysplasia Syndrome, with variable expression. In addition they had hypermetropic astigmatism and horizontal conjugate nystagmus, a feature that has not been previously reported.
Keywords: neuro-ophthalmology: diagnosis • nystagmus • mutations