China
Africa
Explore chapters and articles related to this topic
Ophthalmology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
These may be: Hereditary.Ocular: coloboma, ectopia lentis, aniridia, retinitis pigmentosa, and posterior lenticonus.Systemic: Renal disease: Alport syndrome.Skeletal disease: Marfan syndrome.Skin disease: atopic dermatitis, Marshall syndrome, lamellar icthyosis.Chromosomal disorders: trisomy 21.Metabolic disease: galactokinase deficiency, Fabry disease, Refsum disease, mannosidosis, diabetes mellitus, hypocalcaemia.Neurological disorders: myotonic dystrophy, Wilson disease.Miscellaneous: chronic uveitis, drug induced (steroids), NF2, Stickler syndrome.
Station 1: Abdominal
Published in Saira Ghafur, Parminder K Judge, Richard Kitchen, Samuel Blows, Fiona Moss, The MRCP PACES Handbook, 2017
Saira Ghafur, Parminder K Judge, Richard Kitchen, Samuel Blows, Fiona Moss
What do you know about the manifestations of Alport’s syndrome (AS)? Alport’s syndrome is a genetic disease in which there is defective type IV collagen.There are three main types – X-linked (the most common), in which males are more severely affected than females; autosomal dominant; and autosomal recessiveManifestationsKidneysInitially presents with microscopic haematuria and then proteinuria develops. About 50% of males with X-linked AS require dialysis or transplantation by ~25 years and about ~90% by aged 40 years.Ears Sensorineural hearing lossEyes Anterior lenticonus can lead to slow progressive visual loss.Management Angiotensin-converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARBs) to try to delay onset of ESRDHearing aids as needed
Vitreoretinal Surgery in Rare Conditions
Published in Pradeep Venkatesh, Handbook of Vitreoretinal Surgery, 2023
Intraocular fetal vasculature is a complex network of blood vessels that supply and nourish the developing anterior, intermediate, and posterior regions of the eye during intrauterine growth. Components of the fetal vasculature include the hyaloid artery, tunica vasculosa lentis, and a pupillary network [iridohyaloid and capsulopupillary artery]. These vessels develop by the process of vasculogenesis and, in the large majority of cases, undergo spontaneous dissolution at specific time intervals, long before the newborn is delivered. In some, however, their remnants could be discernible as Mittendroff’s dot and Bergmeister’s papillae on the posterior capsule of the lens and optic nerve head, respectively. These are detected incidentally, minor in nature, and do not lead to any pathological sequelae. In rare instances, the fetal vasculature fails to dissolute and leads to major sequelae, jeopardizing postnatal development of the eyeball as well as VA. This condition is referred to as persistent fetal vasculature [PFA]. In the past, a commonly used terminology for this was persistent hyperplastic primary vitreous (PHPV). In almost 90% of infants, the condition is unilateral and may be associated with persistent pupillary membrane, congenital cataract, macular ectopia, retinal drag, retinal fold, vitreous opacification, coloboma, optic disc hypoplasia, retinal detachment, and retinal disorganization. Some genetic anomalies [trisomies 13, 15, and 18] and systemic associations [neurofibromatosis] may be present in bilateral cases but not in typical unilateral PHPV. In bilateral cases, a rare variant called MPPC syndrome [microcornea, posterior megalolenticonus, PFA, and coloboma] must be considered. In this syndrome, the posterior lenticonus is sometimes said to be so large as to occupy the majority of the vitreous cavity. The usual presenting features are facial asymmetry [orbital], leukocoria, and microphthalmos. Important differential diagnoses to consider are ROP and FEVR. PFV has been classified into anterior, posterior, and combined forms, and recognizing this is important because it has a bearing on the long-term prognosis and in making management decisions. Each of these anatomical types has been further subdivided based on severity into mild and severe. Anterior PFV is characterized by an isolated dense retrolental plaque [cataract may or may not be present] and is termed mild when there is no involvement of the ciliary process and severe if there is. In posterior PFV, there is a stalk of hyaloid artery remnant running anteroposteriorly within the vitreous cavity and no attachment to the crystalline lens. It is mild when optic nerve traction and macular distortion are negligible and severe when it is significant. Combined anterior–posterior has features of both types and could again be either mild or severe. In some children, spontaneous vitreous haemorrhage and complex retinal detachment may be the presenting features.
Temporal retinal thinning and increased foveal avascular zone blood vessel density in alport syndrome: a case report
Published in Clinical and Experimental Optometry, 2021
Christopher J Borgman, Jason Duncan, Mario Martinez
A 28-year-old male presented for second opinion on retinal changes found incidentally on optical coherence tomography (OCT) imaging during routine examination. Ocular history included recurrent corneal erosions bilaterally. Medical history included X-linked Alport syndrome with associated hearing impairment and renal failure resulting in kidney transplantation. Best-corrected visual acuities were 6/7.5 right eye and 6/7.5 left eye. Anterior segment was unremarkable bilaterally, without signs of lenticonus. Dilated fundus exam revealed dot-and-fleck retinopathy bilaterally, and OCT revealed temporal retinal thinning bilaterally also (Figure 1). Additional testing included multifocal electroretinogram with depressed responses in the left eye (Figure 2), and bilateral foveal avascular zone (FAZ) encroachment of the superficial capillary plexus with OCT-angiography (OCT-A) (Figure 3). These ocular findings are consistent with known associations with Alport syndrome.
Ultrastructural and immunofluorescence analysis of anterior lens capsules in autosomal recessive Alport syndrome
Published in Ophthalmic Genetics, 2021
Jiayue Zhou, Jing Wu, Qichuan Yin, Xiaoning Yu, Yilei Cui, Hao Yang, Xingchao Shentu
Alport syndrome was first reported by Alport in 1927 and was described as a hereditary familial congenital hemorrhagic nephritis that is typically accompanied with progressive deafness; male patients tend to have more severe symptoms than females (13). Ocular abnormalities include anterior lenticonus, lens opacities, cataracts, myopia, pigmentary changes (‘flecks’) in the perimacular region, corneal endothelial vesicles, and corneal erosions (5). Anterior lenticonus was recorded in 22% of 94 AS patients (14). Streeten et al. first reported the ultrastructure of the anterior lens capsule of a 30-year-old female patient with lenticonus who had AS, revealing thinning and vertical dehiscences in the capsule and abnormalities in LECs (15). Other researchers also observed similar ultrastructural changes in anterior lens capsules of AS patients. Specifically, the thickness of anterior capsules ranged from 4 to 13 μm, and vertical dehiscences were observed in all cases (16–20). However, because 80%-85% of patients with AS are XLAS patients, all of the cases above are patients with XLAS or uncertain types of AS.
Corneal endothelial cell abnormalities in X-linked Alport syndrome
Published in Ophthalmic Genetics, 2020
Eleanor Nicklason, Heather Mack, Jacqueline Beltz, Julie Jacob, Mina Farahani, Deb Colville, Judy Savige
Lenticonus is pathognomonic for Alport syndrome (17). It occurs in men but not women with X-linked Alport syndrome and in men and women with recessive disease (13,18). It is usually present by the time of onset of renal failure. Anterior lenticonus occurs where the lens protrudes through the thinned lens capsule anteriorly. Posterior lenticonus also occurs. Affected individuals typically complain of increasing difficulty with focusing. The lenticonus is evident as an ‘oil droplet’ on ophthalmoscopy or slit lamp examination, and treatment is with lens replacement. Lenticonus does not recur after surgery.