Table 7.
Checklist of eye signs to take to your Opthalomologist or Eye Surgeon. Here is a checklist for people living with Alport syndrome to take to their Optician or Eye Surgeon, summarising the range of changes that can be seen in the eye in Alport syndrome. The symptoms of many of these conditions overlap, so if there is any concern, they should seek the opinion of an eye specialist
| Diagnosis | Symptoms | Specialised tests | Treatment | Comments |
|---|---|---|---|---|
|
Myopia/short- sightedness |
Blurred vision, difficulty seeing in distance, clear when close | Refraction by Optician | Spectacles | If the prescription is ‘irregular’, get further testing by an eye surgeon you may have lenticonus |
| Recurrent corneal erosions | Sudden sharp pain, watering, sensitivity to bright lights, usually on walking | Slit lamp examination by an optician or ‘eye casualty’ when symptomatic using fluorescein | Lubricating eye drops if frequent, ideally a viscous ointment at night before bed | Settles within 1–2 days, if the eye is very red, must exclude infection |
| Posterior polymorphous dystrophy | Blurred vision | Detailed slit lamp examination, endothelial examination by eye surgeon | Nil initially, if severe may benefit from deep lamellar corneal grafting | Very rare finding |
|
Anterior lenticonus or rarely posterior lenticonus |
Classic Alport syndrome eye finding, a conical deformity of the shape of the lens surface. Blurred vision, progressive short-sightedness not correctable with spectacles | Slit lamp examination, Scheimpflug photography, pentacam imaging, wavefront analysis by eye surgeon | Lens replacement surgery | Lenticonus is a specific finding in Alport syndrome, > 90% of lenticonus seen by eye surgeons is caused by this condition |
| Cataract | Blurred vision, haze, and glare | Slit lamp examination by eye surgeon | Cataract extraction and intra-ocular lens implantation | This may relate to steroid use after a kidney transplant |
| Retinal flecks | A finding typical of Alport syndrome does not appear to have symptoms | Fundus examination by slit lamp biomicroscopy | None | White spots at the macula and the peripheral retina—not macular degeneration, also seen in carriers |
| Macular ‘lozenge’ | No symptoms in early disease | OCT scan of the macula by an eye surgeon (ideally a retinal specialist) | None | The natural history and late findings in older people are unknown |
| Giant macular hole | Blind spot in central vision | OCT scan by a retinal specialist | Vireo-retinal surgery (very specialised eye surgery) | Rare |
Source: Mr. Moin Mohamed and Dr Omar Mahroo, Moorfields Eye Hospital, London, UK