Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome.

ABSTRACT:

Purpose

We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa Syndrome (HVDAS), including longitudinal follow-up and analysis.

Observations

After extensive workup, a young child with poor visual behavior, hypotonic cerebral palsy, intellectual disability, and global developmental delay was found to have a heterozygous de novo mutation in the ADNP gene and diagnosed with HVDAS. Ophthalmic findings were remarkable for progressive nystagmus, macular pigment mottling, mild foveal hypoplasia with abnormal macular laminations, persistent rod dysfunction with electronegative waveform, and progressive cone degeneration.

Conclusions and importance

Patients with HVDAS are known to have abnormal visual behavior due to refractiv

SUBMITTER: Gale MJ 

PROVIDER: S-EPMC5956711 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature