Summary of Clinical Characteristics of Patients with Disease Causing Mutations in <i>AIPL1</i>.

<p>BCVA – best corrected visual acuity; PL - perception of light; BEO – both eyes open; PL - perception of light; XT - exotropia; ET - esotropia; N – no; ND – not done; Am –amaurotic; NS - nuclear sclerosis; OD - right eye; OS - left eye; PAT- photoattraction; PAV - photoaversion; DR- drusen; PS - posterior subcapsular cataract; KC – keratoconus; Y – yes.</p

Scotopic and photopic ERG recordings of patient case 7.

<p>ERGs recorded from case 7 aged 14 months, using skin electrodes to a range of flash strengths (Grass (gr) 1–16) presented scotopically and photopically are shown above age-matched control data in the lower grey panel. These ERGs indicate cone photoreceptor dysfunction; evidenced by markedly reduced photopic cone and 30 Hz flicker ERGs, and a scotopic red flash ERG that shows predominance of the later rod dominated b-wave (arrowed). The scotopic (gr4) mixed rod cone waveform lacks an a-wave and the time to peak is increased. In contrast predominantly rod mediated function is within the normal range; evidenced by the normal a-wave to a maximal scotopic flash and rod driven b-wave to a scotopic dim blue flash.</p

Variants identified in AIPL1 in patients and controls.

*<p>Allele frequency taken from AGI-ASP population on dbSNP. This population is from the Cornell apparently healthy population and the frequency is based on 60 chromosomes.</p>†<p>The minor allele has a frequency in the African American population of 0.022.</p

In silico analysis of all missense variants identified in AIPL1 in this study.

<p>N/D = Unable to make a prediction due to lack of data.</p><p>If all three programs agree that the change is pathological, then the consensus is disease causing. If one or two out of three programs agree with the variant being pathological, this is labelled uncertain. If all three agreed the change was benign (or in the case of polyphen 2 possibly damaging), then the variant is labelled a SNP (if rs number is available) or Benign rare variant.</p