Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

PURPOSE: To assess clinical characteristics, foveal structure, mutation spectrum, and prevalence rate of Åland eye disease (AED)/incomplete congenital stationary night blindness (iCSNB). METHODS: A retrospective survey included individuals diagnosed with AED at a national low-vision center from 1980 to 2014. A subset of affected males underwent ophthalmologic examinations including psychophysical tests, full-field electroretinography, and spectral-domain optical coherence tomography. RESULTS: Over the 34-year period, 74 individuals from 35 families were diagnosed with AED. Sixty individuals from 29 families participated in a follow-up study of whom 59 harbored a CACNA1F mutation and 1 harbored a CABP4 mutation. Among the subjects with a CACNA1F mutation, subnormal visual acuity was present in all, nystagmus was present in 63%, and foveal hypoplasia was observed in 25/43 subjects. Foveal pit volume was significantly reduced as compared to normal (P < 0.0001). Additionally, outer segment length at the fovea was measured in 46 subjects and found to be significantly reduced as compared to normal (P < 0.001). Twenty-nine CACNA1F variations were detected among 34 families in the total cohort, and a novel CABP4 variation was identified in one family. The estimated mean birth prevalence rate was 1 per 22,000 live-born males. CONCLUSIONS: Our data support the viewpoint that AED, iCSNB, and X-linked cone–rod dystrophy 3 are designations that refer to a broad, continuous spectrum of clinical appearances caused in the majority by a variety of mutations in CACNA1F. We argue that the original designation AED should be used for this entity

Acute Angle-Closure Glaucoma Secondary to a Phakic Intraocular Lens, an Ophthalmic Emergency

Implantable collamer lenses (ICL) are phakic (natural lens remains in place) lenses that were first developed in the 1990s for correction of high myopia. The effectiveness and safety of ICLs are making them an increasingly popular option for vision correction in the myopic patient, competing with traditional options like glasses, contacts, and procedures such as laser-assisted in situ keratomileusis. Although generally safe, due to the position of the phakic ICL in the eye, pupillary block remains a rare but vision-threatening complication of ICL implantation. Pupillary block caused by phakic ICL is a serious complication that requires urgent recognition and intervention and is poorly described in emergency medicine literature. We describe a case of pupillary block five years after ICL implantation that was refractory to standard medical therapy, highlighting the importance of early diagnosis and referral for more definitive therapy

Acute Angle-Closure Glaucoma Secondary to a Phakic Intraocular Lens, an Ophthalmic Emergency

Implantable collamer lenses (ICL) are phakic (natural lens remains in place) lenses that were first developed in the 1990s for correction of high myopia. The effectiveness and safety of ICLs are making them an increasingly popular option for vision correction in the myopic patient, competing with traditional options like glasses, contacts, and procedures such as laser-assisted in situ keratomileusis. Although generally safe, due to the position of the phakic ICL in the eye, pupillary block remains a rare but vision-threatening complication of ICL implantation. Pupillary block caused by phakic ICL is a serious complication that requires urgent recognition and intervention and is poorly described in emergency medicine literature. We describe a case of pupillary block five years after ICL implantation that was refractory to standard medical therapy, highlighting the importance of early diagnosis and referral for more definitive therapy