Ocular findings in a case of Pierson syndrome with a novel mutation in laminin ß2 gene

Arima, Mitsuru; Tsukamoto, Shoko; Akiyama, Rumi; Nishiyama, Kei; Kohno, Ri Ichiro; Tachibana, Tetsuya; Hayashida, Akira; Murayama, Miwa; Hisatomi, Toshio; Nozu, Kandai; Iijima, Kazumoto; Ohga, Shouichi; Sonoda, Koh Hei

doi:10.1016/j.jaapos.2018.03.016

Cited by 11 publications

(12 citation statements)

References 7 publications

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“…5 Congenital nephrotic syndrome involving Pierson syndrome, Wilms tumor-Aniridia syndrome, has been associated with a wide range of ocular abnormalities, such as buphthalmos, nonreactive pupils (microcoria), posterior lenticonus as well as anomalies of cornea and retina. [6][7][8][9][10][11] Meanwhile, ocular abnormalities in the form of serous retinal detachment (SRD) are classic features of NS secondary to diabetes or neoplastic disorders, such as plasmacytoma. 12 On the other hand, a diversity of retinal abnormalities has been reported during complicated pregnancy, including subretinal fluid (SRF), subretinal fibrin-like material (SRFM), retinal detachement (RD) with punctate Elschnig's spots, PEDs, clumped hyperreflective materials on the RPE, hypertensive retinopathy and choroidopathy, retinal hemorrhage, bilateral macular hemorrhage and a thickened choroid at the macula combined with pregnancy-induced hypertension (PIH) or HELLP syndrome.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Vision loss in a pregnant woman with nephrotic syndrome

Tsani

Ntafos

Toumanidou

et al. 2021

European Journal of Ophthalmology

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Purpose To report acute visual acuity loss in a pregnant woman with nephrotic syndrome. Case Report A 34-year-old pregnant woman was referred to our service for acute, bilateral visual impairment, associated with bilateral below knee edema (BKE). Best-corrected visual acuity (BCVA) was hand motion in the right eye and 20/200 in the left eye. Dilated fundus exam disclosed multiple pigment epithelium detachments involving the macula in both eyes. After consultation with a nephrologist a diagnosis of nephrotic syndrome was made. Unfortunately, a week later she lost the fetus. At follow-up evaluation, 20 days after the miscarriage, BCVA improved to 20/25 in both eyes with near normal restoration of the retinal anatomy. Conclusion In nephrotic syndrome, sequestration of interstitial fluids, which leads to classic generalized edema, could be the origin of interstitial accumulation of fluids in the retinal and subretinal layers. Increased awareness by the gynaecologists and prompt treatment may prevent fetus miscarriage.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Vision loss in a pregnant woman with nephrotic syndrome

Tsani

Ntafos

Toumanidou

et al. 2021

European Journal of Ophthalmology

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“…8 Similar to our case, mutations in other laminin genes, including LAMAB2 in the setting of Pierson syndrome, result in decreased choroidal thickness. 9 The retinal abnormalities in PBS are progressive, and these patients require close follow-up. In the report by Marlow et al, 3 one patient went on to develop retinal neovascularization in both eyes with preretinal hemorrhages then treated with laser photocoagulation to the avascular retina.…”

Section: Discussionmentioning

confidence: 99%

“…8 Similar to our case, mutations in other laminin genes, including LAMAB2 in the setting of Pierson syndrome, result in decreased choroidal thickness. 9…”

Section: Discussionmentioning

confidence: 99%

Ocular Manifestations of Poretti-Boltshauser Syndrome: Findings From Multimodal Imaging and Electrophysiology

Cai

Kelly

et al. 2020

RETINAL Cases &Amp; Brief Reports

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Background/Purpose: Poretti-Boltshauser syndrome is a rare, nonprogressive neurologic syndrome with characteristic cerebellar cysts on neuroimaging due to mutations in LAMA1. The ophthalmic findings in Poretti-Boltshauser syndrome are not well described. Here, we report the ophthalmic findings from multimodal imaging and electrophysiology of a patient with genetically confirmed Poretti-Boltshauser syndrome.Methods: A 3-year-old boy with confirmed mutations in LAMA1 underwent examination under anesthesia with electroretinography and multimodal imaging including fundus photography, fluorescein angiography, optical coherence tomography, and optical coherence tomography angiography.Results: Dilated fundus examination was notable for retinal vascular anomalies, including a large area of nonperfusion in the temporal macula with corresponding retinal thinning on optical coherence tomography. There was an absence of a distinct foveal avascular zone and decreased density of both the superficial and deep vascular plexuses in the macula on optical coherence tomography angiography. There was diffuse loss of choriocapillaris architecture and decreased choroidal thickness. Conclusion:Patients with Poretti-Boltshauser syndrome may possess chorioretinal thinning and retinal vascular abnormalities appreciable on examination and multimodal imaging. These findings suggest a role for LAMA1 in retinal and choroidal vascular development.

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“…1 Other features such as flat iris, cataract, retinal degeneration, high myopia, megacornea, retinal detachment and persistent fetal vasculature have also been reported. 10 However. these abnormalities may always not be obvious or even present, thus it is imperative to examine the eyes of newborns with kidney problems.…”

Section: Discussionmentioning

confidence: 99%

Pierson Syndrome Associated with Hypothyroidism and Septic Shock

Ejaz

Ali

Siddiqui

et al. 2020

Sultan Qaboos Univ Med J

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Pierson syndrome is caused by mutations in the laminin β2 gene causing absent β2 laminin, which is a normal component of the basement membranes of the mature glomerulus, structures in the anterior eye and neuromuscular junctions. The mutations manifest as congenital nephrotic syndrome and microcoria which are characteristic ocular features of this disease. These mutations may also result in neurological abnormalities such as hypotonia and psychomotor retardation. We report a two-month old boy who presented to the Pediatrics Department of Dr. Ruth K. M. Pfau Civil Hospital, Karachi, Pakistan, in 2015, with the typical features of microcoria and congenital nephrotic syndrome. The hypocalcaemia, hypoproteinaemia and probable immunocompromised state consequent to nephrotic syndrome resulted in seizures, hypothyroidism and urosepsis. Despite being treated aggressively with high dose antibiotics, ionotropic support, angiotensin-converting enzyme inhibitors, thyroxine replacement and nutritional support, the infant died due to significant multiorgan disease including renal failure and septic shock. Keywords: Pierson Syndrome; Microcoria and Congenital Nephrotic Syndrome; Congenital Microcoria; Hypothyroidism; Septic Shock; Case Report; Pakistan.

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Ocular findings in a case of Pierson syndrome with a novel mutation in laminin ß2 gene

Cited by 11 publications

References 7 publications

Vision loss in a pregnant woman with nephrotic syndrome

Vision loss in a pregnant woman with nephrotic syndrome

Ocular Manifestations of Poretti-Boltshauser Syndrome: Findings From Multimodal Imaging and Electrophysiology

Pierson Syndrome Associated with Hypothyroidism and Septic Shock

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