Macular hypoplasia

Macular hypoplasia occurs the most in people that have a diagnosis of albinism. There are four gene mutations that occur in albinism and are linked to macular hypoplasia. The difference among mutated genes results in a difference in phenotypic display of macular hypoplasia. In phenotype FVH1, there is a mutation of the PAX6 gene. FVH1 occurs through autosomal dominant inheritance. The mutation is passed down to the recipient from the mother or father. FVH1 type of macular hypoplasia coincides with cataracts in the eyes. In phenotype, FVH1 is caused by a SLC38A8 gene mutation. FVH2 occurs by autosomal recessive inheritance. Both parents pass the mutated gene to the child. Macular hypoplasia prevails due to improper placement of the optic nerve. == Diagnosis ==

A lack of foveal pigmentation or circumfoveal light reflex is a common finding of macular hypoplasia; however, diagnosis is challenging for those that have a darker pigmentation of the skin, hair, and iris. Originally, findings of nystagmus, or involuntary movement, and lack of blood flow to the retina using fluorescein angiography (FA) were used to detect macular hypoplasia. FA uses light to look at the retina and blood vessel development in the eye using a dye. This is a noninvasive procedure where patients rest their chin and focus on a green light within the machine. Eye dryness and fatigue are the limited risks associated with this scan. Other diseases that can be diagnosed using OCT are glaucoma, macular degeneration, and diabetes-related retinopathy. == Treatment ==

Currently, there is no specific pharmacotherapy that prevents or reserves macular hypoplasia; however, reading glasses or other vision devices can be used to enhance the quality of life for individuals. == References ==