Hereditary maculopathies consist of a diverse group of disorders that affect central vision, with variable degrees of degeneration of the macula and retinal pigment epithelium (RPE). Molecular genetics has become increasingly useful in terms of disease categorization, diagnosis, and prognosis. This issue summarizes clinical features, study results, prognoses, and current molecular genetic discoveries pertaining to the most common and well-understood hereditary maculopathies.
Upon completion of this Focal Points issue, you should be able to:
- Describe the clinical features and characteristic study findings of the most common hereditary maculopathies.
- Discuss the basic genetics and pathophysiology of hereditary maculopathies.
- Consider the impact of molecular genetics on the future treatment of hereditary maculopathies and other forms of macular degeneration.
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The American Academy of Ophthalmology designates this enduring material for a maximum of 2 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.