Role of multimodal ocular imaging in Alport syndrome

A 6-year-old systemically healthy child presented with visual acuity of 1/60, N18 oculusdextrus (OD), and 6/18, N6 oculus sinister (OS). Slit-lamp biomicroscopy revealed suspicious bilateral inferotemporal pigmented ciliary body (CB) tumour, protruding posterior capsule and temporal posterior subcapsular cataract oculus uterque. Anterior segment optical coherence tomography, ultrasonography, ultrasonic biomicroscopy and Scheimpflug imaging revealed protruding posterior capsule and cortex abutting but not arising from CB suggestive of peripheral pigmented posterior lenticonus with hypermetropia (axial length 20.27 mm OD and 19.97 mm OS). Aberrometry revealed high internal aberrations and low Dysfunctional Lens Index (DLI). Lens aspiration with intraocular lens implantation in the bag OD and contact lens correction OS were undertaken. The child had a postoperative visual gain of 3/60, N18 with improved aberrometric profile OD, and was advised amblyopia therapy. Rarely posterior lenticonus can mimic a CB mass. Multi-modal ocular imaging can aid in its diagnosis and management. DLI may serve as a useful indicator of surgery in such cases.

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The role of discoidin domain receptor 2 in the renal dysfunction of alport syndrome mouse model

Renal Failure ◽

10.1080/0886022x.2021.1896548 ◽

2021 ◽

Vol 43 (1) ◽

pp. 510-519

Author(s):

Yuya Sannomiya ◽

Shota Kaseda ◽

Misato Kamura ◽

Hiroshi Yamamoto ◽

Hiroyuki Yamada ◽

...

Keyword(s):

Mouse Model ◽

Renal Dysfunction ◽

Alport Syndrome ◽

Discoidin Domain Receptor ◽

Discoidin Domain Receptor 2

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Iris and its relevance to angle closure disease: a review

British Journal of Ophthalmology ◽

10.1136/bjophthalmol-2020-316075 ◽

2020 ◽

Vol 105 (1) ◽

pp. 3-8

Author(s):

Zhi Da Soh ◽

Sahil Thakur ◽

Shivani Majithia ◽

Monisha Esther Nongpiur ◽

Ching-Yu Cheng

Keyword(s):

Potential Role ◽

Biomechanical Properties ◽

Angle Closure ◽

Primary Angle Closure ◽

Primary Angle Closure Glaucoma ◽

Ocular Imaging ◽

Clinical Consequences ◽

Closed Angle ◽

Fluid Conductivity

Glaucoma is a leading cause of irreversible visual impairment, and primary angle closure glaucoma (PACG) affects Asians disproportionately. Whereas advances in ocular imaging have identified several anatomical risk factors, our ability to predict PACG still requires considerable improvement. The iris plays a crucial role in the pathophysiology of angle closure disease, either through a mechanical or vascular mechanism. Irises of closed-angle eyes inhibit vastly different structural constituents as compared with those of open-angle eyes, thereby effecting variations in biomechanical properties and iris fluid conductivity. The clinical consequences include a smaller change in iris volume on pupil dilation in closed-angle eyes, thereby bringing the iris and trabecular meshwork closer in apposition. In this review, we summarise the potential role of the iris in the pathogenesis of angle closure disease.

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Alport syndrome with bilateral simultaneous anterior and posterior lenticonus with severe temporal macular thinning

BMJ Case Reports ◽

10.1136/bcr-2019-229554 ◽

2019 ◽

Vol 12 (8) ◽

pp. e229554

Author(s):

Vinita Gupta ◽

Mahsa Jamil ◽

Saurabh Luthra ◽

Athul S Puthalath

Keyword(s):

Optical Coherence Tomography ◽

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Renal Biopsy ◽

Crucial Role ◽

Alport Syndrome ◽

Hereditary Disease ◽

Work Up ◽

Anterior Lenticonus

Alport syndrome (AS) is a hereditary disease with various modes of inheritance, X-linked being the the most common. Anterior lenticonus is the characteristic abnormality along with perimacular and peripheral fleck retinopathy. Our two cases of AS had simultaneous anterior and posterior lenticonus with severe temporal macular thinning on optical coherence tomography with no specific renal symptomatology and were diagnosed as AS without any invasive renal biopsy. First patient was a 19-year-old man who presented with compound myopia due to bilateral anterior and posterior lenticonus with perimacular fleck retinopathy and lozenge sign and bilateral moderate sensorineural hearing loss (SNHL). Second patient was a 24-year-old man who presented with difficulty in vision due to bilateral anterior and posterior lenticonus with bilateral severe SNHL. Our cases emphasise the crucial role of an ophthalmologist in diagnosing AS before the onset of renal symptoms and prompting further nephrological work-up in the patient or the carrier.

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Recent Advances in Ocular Imaging Techniques

US Ophthalmic Review ◽

10.17925/usor.2017.10.02.87 ◽

2017 ◽

Vol 10 (02) ◽

pp. 87

Author(s):

Parag A Majmudar ◽

Keyword(s):

Refractive Surgery ◽

Imaging Techniques ◽

Anterior Segment ◽

Toric Intraocular Lens ◽

Expert Interview ◽

Ocular Imaging ◽

Rapid Pace ◽

Anterior Segment Imaging ◽

Optimal Imaging

I maging of the eye is an integral part of ophthalmic examination, and is essential for the diagnosis, assessment of severity and progression, and evaluation of management of ocular disease. Advances in imaging technology are progressing at a rapid pace. In an expert interview Parag A Majmudar discussed a number of aspects of optical imaging including the role of optical coherence tomography (OCT) in corneal and refractive surgery, optimal imaging of the eye during toric intraocular lens (IOL) implantation, and the role of aberrometry during anterior segment imaging.

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