Table 1 Summary of clinical observations

From: The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

Family ID

Individual ID

Age at examination

BCVA

Fundus findings and ocular history

OCT

ERG

Non-ocular findings

F1

1

65

PL OD, PL OS

Nyctalopia (age 18), peripheral and central vision loss. RPE atrophy, bone spicules, vessel attenuation.

Outer retina/RPE loss

pERG: undetectable, ffERG: undetectable (scotopic/photopic)

PKD (did not segregate with RP)

F2

1

42

N/A

RPE/outer retina atrophy.

Outer retina/RPE loss

N/A

None

F3

1

70

20/20 OD, 20/20 OS

Nyctalopia, superior field loss, inferior and inferio-temporal intra-retinal pigment deposition.

Atrophy of outer retinal layers with relative preservation of central retina

ffERG:delay/amplitude reduction (scotopic), a-wave delay, b-wave reduction/delay (photopic)

None

F4

3

35

20/40 OD, 20/20 OS

Right eye ambylopia and anisometropia.

–

ffERG: No recordable photopic or scotopic responses.

Gross and fine MD, walked at 18 months. Mild hypertonia and brisk reflexes in lower limbs. Learning disability. Premature ovarian insufficiency.

 

4

33

20/40 OU

Mild myopia (−2.25 OU). III4e visual field central 10o. Bone spicule pigment clumping in periphery. Unmasking of the large choroidal vessels in the mid-periphery; prominent arteriolar attenuation.

Atrophy of outer retinal layers with relative preservation of central retina.

ffERG small residual cone-driven responses to flash and flicker stimuli under photopic conditions. No rod driven responses

Gross and fine MD, walked at 17 months. Spastic diplegia, dystonic hand posturing with ambulation. Learning disability. MRI brain shows mild volume loss, mild thinning of CC, and non- specific T2 hyperintensities. Low spermatozoa concentration, motility unable to be assessed.

 

5

31

20/200 OD; 20/70 OS

Laser surgery to correct high myopia (−11OD; −13OS) now Mild myopia (−1.5 OD; −2.75 OS). III4e central 20 degrees.

–

Reduced rod responses

Mild gross MD. Learning disability and visual processing disability, ADHD. Tonic clonic seizures onset at 19 years. MRI normal with mild signal asymmetry in cortical spinal tract. Low spermatozoa concentration with impaired motility.

  1. ADHD Attention Deficit Hyperactivity Disorder, BCVA Best-corrected Visual Acuity, CC Corpus Callosum, ERG Electroretinogram (p pattern, ff full field), MD Motor Delay, MRI Magnetic Resonance Imaging, OCT Optical Coherence Tomography, OD Right eye, OS Left eye, OU Both eyes, PKD Polycystic Kidney Disease, PRs Photoreceptors, RPE Retinal Pigment Epithelium.
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