Ocular manifestations and surgical results in patients with Alport syndrome

Seymenoğlu, Göktuğ; Başer, Esin

doi:10.1016/j.jcrs.2009.03.019

Cited by 29 publications

(38 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Clear lens extraction (CLE) with intraocular lens (IOL) implantation has been successfully used by many ophthalmologists and provided good postoperative vision. [2][3][4][5] Since myopia in Alport syndrome patients is lenticular and not pathological, there is minimal added risk for retinal detachment following clear lens extraction.…”

mentioning

confidence: 99%

Clear lens extraction in Alport syndrome with combined anterior and posterior lenticonus or ruptured anterior lens capsule

Gupta¹,

Babu²,

Srinivasan³

et al. 2011

Journal of Cataract and Refractive Surgery

View full text Add to dashboard Cite

show abstract

mentioning

confidence: 99%

Clear lens extraction in Alport syndrome with combined anterior and posterior lenticonus or ruptured anterior lens capsule

Gupta¹,

Babu²,

Srinivasan³

et al. 2011

Journal of Cataract and Refractive Surgery

View full text Add to dashboard Cite

show abstract

“…The appearance of ocular and hearing injuries is not usually predominant in autosomal dominant patterns of Alport syndrome, which represents a difference compared with the recessive and sex-linked patterns [14,17,18]. Bilateral sensorineural high tones hearing loss was an early onset symptom in our series, and it was present in most of the patients.…”

Section: Discussionmentioning

confidence: 55%

“…However, our patients were diagnosed with hearing loss at an early age (before 30 years), which can be explained by the high clinical variability presented by this inheritance pattern [1]. In our series we found patients with ocular injuries, such as lenticonus, which until now had only been described in recessive and sex-linked inheritance patterns [10,14,17,20].…”

Section: Discussionmentioning

confidence: 89%

Study of the True Clinical Progression of Autosomal Dominant Alport Syndrome in a European Population

Rosado

Bueno

Felipe

et al. 2015

Kidney Blood Press Res

View full text Add to dashboard Cite

Background/Aims: Autosomal dominant Alport syndrome represents 5% of all Alport syndrome cases. This entity presents a different clinical expression from the recessive inheritance pattern and the X chromosome-linked pattern, because it is mild and it shows a late onset, which in many cases even goes unnoticed. Methods: We carried out a descriptive observational and retrospective clinical study on 19 patients from 5 families with a clinical diagnosis of autosomal dominant Alport Syndrome, and we analyzed the expression of the symptoms in the different families, comparing the results with what has been described in the literature. Results: Renal involvement appeared at a young age, with a progression towards end-stage chronic kidney disease at a median age of 31 years (20.5-36.5). Hearing involvement also appeared in early stages, at a median age of 28.5 years (7.5-62.5). Also, we observed ocular lenticonus-like injuries, which until now have only been described in other inheritance patterns. Conclusions: Our results suggest that dominant patterns are accompanied by a severe clinical expression that can be superimposed to the recessive and X chromosome-linked patterns, contrary to what has been classically stated. The high phenotypic variability observed in the families lead to the fact that many cases go unnoticed and the severest cases are erroneously diagnosed as recessive, which means that the real prevalence of dominant forms is probably higher than the current 5%.

show abstract

“…The most common retinal abnormality is a presence of peripheral and macular "dots" and "flecks". These findings do not occur concomitantly with the BCVA decline (4,5) . Other fundoscopic sings reported more rarely were: bilateral macular hole, vitelliform lesion and macular atrophy (59) .…”

Section: Discussionmentioning

confidence: 63%

“…LVA is consequent to modifications in the crystalline lens as anterior lenticonus, posterior lenticonus, microspherophakia and cataract and may be reversible after phacoemulsification and IOL implantation in the capsular bag (4) . The most common retinal abnormality is a presence of peripheral and macular "dots" and "flecks".…”

Section: Discussionmentioning

confidence: 99%