ACMG	American College of Medical Genetics and Genomics
AI	artificial intelligence
AMP	Association for Molecular Pathology
AO-SLO	adaptive optics scanning laser ophthalmoscopy
AUC	area under the curve
CADD	Combined Annotation Dependent Depletion
CLIA	Clinical Laboratory Improvement Amendments
CMA	chromosomal microarray analysis
CNN	convolutional neural network
CNV	copy-number variant
ERG	electroretinography
FAF	fundus autofluorescence
ffERG	full-field electroretinography
FST	full-field stimulus testing
gnomAD	Genome Aggregation Database
iPSC	induced pluripotent stem cell
IRD	inherited retinal disease
LLM	large language model
LOVD	Leiden Open Variation Database
LRS	Long-Read Sequencing
mfERG	multifocal electroretinography
ML	machine learning
MLMT	multi-luminance mobility test
MLPA	multiplex ligation-dependent probe amplification
NGS	next-generation sequencing
NLP	natural language processing
OCT	optical coherence tomography
OMIM	Online Mendelian Inheritance in Man
ONT	Oxford Nanopore Technologies
qPCR	quantitative polymerase chain reaction
REVEL	Rare Exome Variant Ensemble Learner
RNA-seq	RNA sequencing
RP	retinitis pigmentosa
SD-OCT	spectral-domain optical coherence tomography
SNV	single-nucleotide variant
srWGS	short-read whole-genome sequencing
SS-OCT	swept-source optical coherence tomography
SV	structural variant
VUS	variant of uncertain significance
WES	whole-exome sequencing
WGS	whole-genome sequencing