RESUMO
The term nanophthalmos refers to a clinically small eye that appears morphologically normal. A nanophthalmos is characterized by hyperopia but can also be associated with various secondary pathologies, such as angle-closure glaucoma. In particular, the perioperative risks associated with a nanophthalmic eye necessitate examination of the anatomical characteristics, which can result from the disproportional size of intraocular tissues despite structural normality. These include a small anterior chamber depth, scleral thickening and anomalies of the vein plexus, which are predisposing factors for the formation of angle-closure glaucoma. The resulting therapeutic challenges in the nanophthalmic eye can be countered with iridectomy, lensectomy, vitrectomy and cyclophotocoagulation. The definition, genetics and clinical findings of nanophthalmos are discussed with a focus on the complication of glaucoma and its treatment.
Assuntos
Glaucoma , Microftalmia , Humanos , Pressão Intraocular , Iridectomia , VitrectomiaRESUMO
Silicone oil is an intraocular tamponade that is essential for the treatment of complicated retinal detachment. As a long-term tamponade, it improves retinal reattachment and visual outcome. Unexpectedly, surgery with silicone oil tamponade may result in irreversible visual loss of unknown origin. In this report, we provide a general overview of unexplained visual loss after surgery with silicone oil. The frequency of such reports has increased continuously in recent years. The German Retina Society - supported by Retinanet (http://retina-net.uni-koeln.de) - has initiated data collection to gather information about such cases, in cooperation with Cologne University Eye Hospital. Ophthalmologists can provide data about cases of unexplained visual loss anonymously via the "Cologne Clinical Trials Centre" or via augenklinik-silikonoel@uk-koeln.de.
Assuntos
Descolamento Retiniano , Óleos de Silicone , Cegueira , Humanos , Retina , Óleos de Silicone/efeitos adversos , Acuidade Visual , VitrectomiaRESUMO
BACKGROUND: Leber congenital amaurosis (LCA) is a severe retinal dystrophy, typically manifesting in the first year of life. Mutations in more than 18 genes have been reported to date. In recent studies, biallelic mutations in NMNAT1 encoding nicotinamide mononucleotide adenylyltransferase 1 have been found to cause LCA. PURPOSE: To broaden the knowledge regarding the phenotype of NMNAT1-associated LCA. METHODS: Clinical ophthalmologic examinations were performed in two sisters with LCA. Whole exome sequencing was performed in one of the affected girls, with subsequent segregation analysis in the affected sister and unaffected parents. The literature was reviewed for reports of NMNAT1-associated LCA. RESULTS: Exome sequencing revealed the known NMNAT1 mutation c.25G>A (p.Val9Met) in a homozygous state. Segregation analysis showed the same homozygous mutation in the affected younger sister. Both parents were found to be heterozygous carriers of the mutation. The two girls both presented with severe visual impairment, nystagmus, central atrophy of the pigment epithelium, and pigment clumping in the periphery before the age of 6 months. Retinal vessels were attenuated. Both children were hyperopic. In the older sister, differential diagnosis included an inflammatory origin, but electrophysiology in her as well as her sister confirmed a diagnosis of LCA. Pallor of the optic nerve head was not present at birth but developed progressively. CONCLUSIONS: We confirmed a diagnosis of NMNAT1-associated LCA in two siblings through identification of the mutation (c.25G>A [p. Val9Met]) in a homozygous state. In infants with non-detectable electroretinogram (ERG), along with severe congenital visual dysfunction or blindness and central pigment epithelium atrophy with pigment clumping resembling scarring due to chorioretinitis, LCA due to NMNAT1 mutations should be considered.
Assuntos
Amaurose Congênita de Leber/genética , Mutação de Sentido Incorreto , Nicotinamida-Nucleotídeo Adenililtransferase/genética , Sequência de Bases , Cegueira/diagnóstico , Cegueira/genética , Cegueira/fisiopatologia , Criança , Pré-Escolar , Consanguinidade , Análise Mutacional de DNA , Eletrorretinografia , Potenciais Evocados Visuais/fisiologia , Exoma/genética , Feminino , Humanos , Amaurose Congênita de Leber/diagnóstico , Amaurose Congênita de Leber/fisiopatologia , Dados de Sequência Molecular , Linhagem , Tomografia de Coerência Óptica , Acuidade Visual/fisiologiaRESUMO
BACKGROUND: Some patients with esotropic Duane's retraction syndrome (type 1) adopt a head turn to gain binocular vision. For some patients recession of the ipsilateral medial rectus muscle is not sufficient to eliminate head turn and squint angle. Surgery with tendon elongation allows the correction of larger angles and maintains a sufficient arc of contact. We report our results and experience. METHODS: We retrospectively reviewed the medical records of 10 patients with unilateral, esotropic Duane syndrome type 1 who had tendon elongation with bovine pericardium to correct a head turn or squint angle. Two patients had primary surgery with tendon elongation due to preoperative excessive angles, eight patients had tendon elongations as secondary procedures. Nine of the patients had their follow-up examination at least six weeks after surgery. RESULTS: The median preoperative angle of squint in primary position was + 27.5 pdpt, the median postoperative angle + 0 pdpt. The median dose effect relation for secondary interventions was 2.4 pdpt reduction of squint angle/mm surgery, for one patient with primary surgery and long-term follow-up 2.75 pdpt/mm. The median, preoperative head turn of seven patients with preoperative binocular functions was 20°. Postoperatively, six patients with long-term follow-up showed a median head turn of 0°. The median dose-effect relation was 3.3° reduction of head turn/mm surgery. All nine patients with long-term follow-up had a maximal head turn of 10°, six of the patients had no persisting head turn. Binocular functions were stable or better than preoperatively. CONCLUSIONS: For patients with retraction syndrome type 1, tendon elongation of the medial rectus muscle using Tutopatch® is a good option for secondary interventions or excessive preoperative squint angle or head turn.