Table of Contents
Foveal Hypoplasia
- Lack of formation of the foveal depression
- Foveal plana = absent foveal pit
- associated with poor vision and nystagmus
Ocular Associations
- Aniridia (PAX6)
- Achromatopsia
- Congenital retinal macrovessel
- Coloboma
- Optic Nerve Hypoplasia
- Retinopathy of Prematurity
Isolated Foveal Hypoplasia
- Autosomal Dominant from PAX 6 gene variants
- Autosomal Recessive from SLC38A8 gene variants
- SLC38A8 codes for a glutamine transporter in photoreceptors, mutations in the 6th transmembrane domain cause underdevelopment of the retina
- X-linked from FRMD7 gene variants
- FRMD7 regulates neuronal outgrowth
- also associated with familial infantile nystagmus
Systemic Associations
Diagnostic Procedures
- Visual acuity
- VA is variable but can range from 20/40 to 20/200
- Oculomotor
- Nystagmus and strabismus
- Ophthalmoscopy
- absence of foveal reflex and foveal avascular zone and typical macular pigment
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- Absence of foveal pit, persistent inner retinal layers through fovea
- Example of an OCT report of a child with foveal hypoplasia
- OCT-A
- absence of superficial capillary plexus and variable decrease in deep capillary plexus in the fovea