Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM)

Area of Science:

• Ophthalmology
• Genetics
• Retinal Diseases

Background:

• Maculopathy represents a significant cause of vision impairment.
• Hereditary maculopathies often present with complex genetic underpinnings.
• Describing new forms of maculopathy is crucial for understanding retinal degeneration.

Purpose of the Study:

• To characterize a previously unreported maculopathy in a Dutch family across three generations.
• To investigate the clinical and genetic features of this distinctive retinal condition.

Main Methods:

• Retrospective chart review of three affected individuals from a single family.
• Comprehensive ophthalmic examinations including visual acuity, fundus photography, and multimodal imaging.
• Advanced genetic analyses: next-generation sequencing, whole-exome sequencing, and SNP arrays.

Main Results:

• Affected individuals presented with congenital nystagmus and progressive low visual acuity.
• Distinctive sharply demarcated areas of macular chorioretinal atrophy were observed from early childhood.
• Full-field electroretinography (ffERG) showed normal cone and rod responses, indicating a central retinal process.
• Extensive genetic analyses did not identify pathogenic variants in known disease-associated genes.

Conclusions:

• A novel maculopathy, Pseudocolobomatous Autosomal Dominant Atrophic Maculopathy (PADAM), is described.
• PADAM is a hereditary condition leading to progressive central vision loss.
• Further research is needed to elucidate the genetic basis and mechanisms of PADAM.