Q10-Q18: Congenital malformations of eye, ear, face and neck
Q11: Anophthalmos, microphthalmos and macrophthalmos
Anophthalmos, microphthalmos, and macrophthalmos are conditions affecting the development and size of the eyes. Anophthalmos is a rare condition where one or both eyes are absent at birth, while microphthalmos and macrophthalmos refer to an abnormally small or large eyeball respectively. All these conditions can impact both the structure and function of the eye. These conditions often occur due to genetic mutations or issues with blood vessel development during pregnancy, and are typically present at birth. They may contribute to visual impairment or blindness, depending on the severity and which part of the eye is affected. Disease progression is typically stable after birth, but this can depend on other health factors. These conditions affect the ocular system primarily, but can also have impacts on mental health due to their impact on visual abilities and appearance.
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