IC3D Classification of Corneal Dystrophies—Edition 2

Jayne S. Weiss, Hans Ulrik Møller, Anthony J. Aldave, +13

Cornea

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Cecilie Bredrup, Sophie Saunier, Machteld M. Oud, +24

The American Journal of Human Genetics

UrologyMendelian DisorderRenal InsufficiencyGenetic DisorderGenetics +9

Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

Torunn Fiskerstrand, Dorra H’mida-Ben Brahim, Stefan Johansson, +15

The American Journal of Human Genetics

Cannabis UseNeurodegenerative DiseasesNeurodegenerative Disease PharcGenetic DisorderGenetics +10

Congenital Stromal Dystrophy of the Cornea Caused by a Mutation in the Decorin Gene

Cecilie Bredrup, Per M. Knappskog, Jacek Majewski, +2

Investigative Ophthalmology & Visual Science

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

Kristoffer Haugarvoll, Stefan Johansson, Charalampos Tzoulis, +6

Orphanet Journal of Rare Diseases

Ophthalmological Aspects of Pierson Syndrome

Cecilie Bredrup, Verena Matejas, Margaret Barrow, +23

American Journal of Ophthalmology

Pierson SyndromeOcular DiseaseOphthalmologyOcular PathologyNeuropathology +1

IC3D Classification of Corneal Dystrophies—Edition 3

Jayne S. Weiss, Christopher J. Rapuano, Berthold Seitz, +13

Cornea

A Second Decorin Frame Shift Mutation in a Family With Congenital Stromal Corneal Dystrophy

Eyvind Rødahl, Rita Van Ginderdeuren, Per M. Knappskog, +2

American Journal of Ophthalmology

Developmental AnomalyDevelopmental BiologyOphthalmologyCorneal DystrophyOcular Pathology +1

The intronic <i><scp>ABCA</scp>4</i> c.5461‐10T&gt;C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced <scp>ABCA</scp>4 protein level

Ingvild Aukrust, Ragnhild Wivestad Jansson, Cecilie Bredrup, +7

Acta Ophthalmologica

Decorin Accumulation Contributes to the Stromal Opacities Found in Congenital Stromal Corneal Dystrophy

Cecilie Bredrup, Espen Stang, Ove Bruland, +5

Investigative Ophthalmology & Visual Science