Table 1.
Clinical Characteristics of Individuals with Autosomal-Recessive Mendelian Phenocopies of Myopia
| ID | Age | Sex | Axial | Retinoscopy | BCVA | Mutation | Comments |
|---|---|---|---|---|---|---|---|
| II-8 | 15 | F | 35.35 | −25.00, −3.00×060 | 20/70 | LRPAP1: c.605delA (p.Asn202Thrfs∗8) | none |
| 35.37 | −27.00, −3.00×030 | 20/70 | |||||
| II-9 | 6 | F | 32.44 | −18.50, −5.00×150 | 20/60 | LRPAP1: c.605delA (p.Asn202Thrfs∗8) | diaphragm surgery soon after birth |
| 31.89 | −14.50, −5.00×160 | 20/60 | |||||
| II-12 | 16 | M | 37.65 | −23.00, −1.00×010 | 20/70 | LRPAP1: c.863_864del (p.Ile288Argfs∗118) | left esotropia |
| 37.45 | −24.75 | 20/100 | |||||
| II-13 | 15 | F | 35.20 | −23.75, −0.75×005 | 20/100 | LRPAP1: c.863_864del (p.Ile288Argfs∗118) | esotropia |
| 35.81 | −23.50, −1.75×150 | 20/100 | |||||
| II-14 | 4 | M | 31.19 | −20.00 | CSM | LRPAP1: c.863_864del (p.Ile288Argfs∗118) | exotropia |
| 30.82 | −20.00 | CSM | |||||
| II-1 | 7 | F | 31.55 | −26.00 | 20/100 | LRPAP1: c.863_864del (p.Ile288Argfs∗118) | esotropia |
| 30.95 | −26.00 | 20/100 | |||||
| II-1 | 4 | M | 29.64 | −23.50 | CSM | LRPAP1: c.863_864del (p.Ile288Argfs∗118) | none |
| 29.80 | −23.00 | CSM | |||||
| II-3 | 2 | M | NA | −19.00 | CSM | LRPAP1: c.863_864del (p.Ile288Argfs∗118) | intermittent |
| NA | −19.00 | CSUM | esotropia | ||||
| F4 | 1 | M | 27.60 | −17.00 | CSM | CTSH: c.485_488del | phthisis bulbi in the other eye, dysmorphia |
Where relevant for a given individual, first row refers to right eye and second row to left eye. Age is given in years. Sex is indicated as “M” for male and “F” for female. Retinoscopy in given in diopters after cyclopentolate 1% (first number is the sphere and second number is the cylinder [indicating astigmatism] followed by the axis). Abbreviations are as follows: BCVA, best-corrected visual acuity; NA, not able to be performed because of young age; CSM, central steady and maintained fixation; CSUM, central steady and unmaintained fixation.