Table 1.
Clinical findings in the three ARR3 families
| Person (symbol pedigree) | Mutation ARR3 | SER (Diopters) | Astigmatism | Axial length (mm) | Complications |
|---|---|---|---|---|---|
| Family I | NM_004312.2(ARR3) c.767+1G>A; p.?. | ||||
| A | + | −8/.0‐9.5 | 26.75/26.09 | ||
| B | + | −8.0/−8.75 | + | 26.09/26.08 | |
| C | + | ‐/‐ | + | ||
| E | + | −20/−20 | Myopic macular degeneration, glaucoma, subcapsular cataract | ||
| F | ‐/‐ | + | |||
| H | −19/−20 | ||||
| K | <−6/<−6 | ||||
| M | −13/−15 | Posterior subcapsular cataract, subretinal neovascularization, ocular hypertension | |||
| Family II | NM_004312.2(ARR3) c.214C>T, p.(Arg72*) | ||||
| A | + | −18.75/−16.00 | 30.46/29.70 | Myopic macular degeneration | |
| C | −24/−24 | ||||
| D | + | −12/−12 | |||
| G | + | −10/−10 | |||
| L | <−6/<−6 | Retinal detachment | |||
| M | −23/−23 | ||||
| N | <−6/<−6 | ||||
| O | <−6/<−6 | ||||
| Family III | NM_004312.2(ARR3) c.848delG, p.(Gly283fs) | ||||
| A | + | −15.75/−11.00 | 29.40/28.03 | Ocular migraines, recurrent nasotemporal vision loss. Posterior staphyloma (right eye) | |
| B | −2/−1 | ||||
| C | + | −20/−20 | |||
| D | <−6/<−6 | ||||
| E | −6/−6 | ||||
| F | −1/−1 | ||||
| G | −3/−3 | ||||
| H | <−6/<−6 |
Abbreviation: SER, spherical equivalent of refraction.