Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females

Biochemistry, Genetics and Molecular Biology

• Molecular Genetics 100%
• Proband 100%
• Maculopathy 100%
• Whole Genome Sequencing 50%
• Single Nucleotide Polymorphism 50%
• Type IV Collagen 50%
• Multiplex Ligation-Dependent Probe Amplification 50%
• COL4A5 50%
• Best Corrected Visual Acuity 50%
• Creatinine Blood Level 50%
• Exome Sequencing 50%
• COL4A4 50%
• Visual Field 50%

Medicine and Dentistry

• Maculopathy 100%
• Genetic Disorder 33%
• Clinical Examination 33%
• Nephropathy 33%
• Optical Coherence Tomography 33%
• Fundus Photography 33%
• Genetic Analysis 33%
• Hearing Impairment 33%
• Creatinine 33%
• Single Nucleotide Polymorphism 33%
• Visual Field 33%
• Multiplex Ligation Dependent Probe Amplification 33%
• Collagen Type 4 33%
• Alport Syndrome 33%
• Urinalysis 33%
• Eye Disease 33%
• Best Corrected Visual Acuity 33%
• Exome Sequencing 33%
• Genome Sequencing 33%
• Ultrasound Biomicroscopy 33%

Immunology and Microbiology

• Single Nucleotide Polymorphism 100%
• Creatinine Blood Level 100%
• Whole Genome Sequencing 100%
• Multiplex Ligation Dependent Probe Amplification 100%
• Whole Exome Sequencing 100%
• Visual Field 100%
• Best Corrected Visual Acuity 100%