Bilateral Combined Hamartomas of the Retina and Retinal Pigment Epithelium as the Presenting Feature of Neurofibromatosis Type 2 (Wishart Type)

Abstract

An 8-week-old healthy female infant manifested leukocoria and reduced vision in the left eye. She was found to have bilateral combined hamartomas of the retina and retinal pigment epithelium. There were no other features of neurofibromatosis type 2 and brain imaging was normal. At 6 months of age, subtle posterior subcapsular lens opacity was noted in the right eye. Genetic testing for neurofibromatosis type 2 was advised but not performed. At 3 years of age, leg weakness with quadriceps atrophy led to neuroimaging and detection of multiple tumors, including bilateral vestibular schwannomas and cervical, thoracic, and lumbar paraspinal schwannomas. Molecular testing revealed a nonsense mutation in the neurofibromatosis type 2 gene. Bilateral combined hamartomas were the presenting feature of a severe phenotype of neurofibromatosis type 2.

Neurofibromatosis: analysis of clinical cases and new diagnostic criteria

“…Как правило, ранний клинический дебют (до 25 лет) ассоциирован с более тяжелым течением Для пациентов с более поздним клиническим дебютом (после 25 лет) прогноз более благоприятный (тип Гарднер) [36].…”

Bilateral combined hamartoma of retinal pigment epithelium and retina

“…Bilateral presentation is rare and known to occur in NF 2 3 4. They may be mistaken for postinflammatory scar or idiopathic epiretinal membranes as OCT findings are very subtle in the young.…”

Retinale astrozytäre Hamartome bei Neurofibromatose Typ 2 – Metaanalyse und Fallbericht

“…Es wurde ein Zusammenhang zwischen dem Nachweis von retinalen Hamartomen und einem schweren Verlauf der NF2 beschrieben [8,15].…”