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

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.

A Critical Role of the Insula in Sensorineural Hearing Loss

2018 ◽  
Author(s):  
Xiao-Min Xu ◽  
Yun Jiao ◽  
Tianyu Tang ◽  
Jian Zhang ◽  
Chunqiang Lu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Critical Role ◽  
Sensorineural Hearing

Role of ciclosporin in steroid-responsive sudden sensorineural hearing loss

2005 ◽  
Vol 125 (12) ◽  
pp. 1356-1360 ◽  
Author(s):  
Lisha McClelland ◽  
Richard J. Powell ◽  
John Birchall
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing

scholarly journals Alport Syndrome: The Eye as a Window to the Human Body

2021 ◽  
Vol 33 (3) ◽  
pp. 46-48
Author(s):  
Aysha Tareq Nusef ◽  
Abdulla Almoosa ◽  
Wael Wagih Aly
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Renal Insufficiency ◽  
Sensorineural Hearing Loss ◽  
Alport Syndrome ◽  
Crystalline Lens ◽  
Secondary Hypertension ◽  
Sensorineural Hearing ◽  
Blurred Vision ◽  
Ophthalmic Manifestations

Alport syndrome (AS) is a rare genetic disease affecting type four collagen production, causing renal, auditory, and ophthalmic manifestations. This case report is about a 32-year-old male who was a known case of renal insufficiency and secondary hypertension and was referred to the ophthalmology department due to blurred vision. Based on the patient‘s history and ophthalmological findings, AS was diagnosed. Ophthalmic examination showed anterior lenticonus associated with sensorineural hearing loss (SNHL) and impaired renal function. This clinical case report sheds light on the role of ophthalmology in diagnosing AS. Keywords: Collagen, Crystalline lens, Hereditary nephritis, Ophthalmology, Renal insufficiency, Sensorineural hearing loss

scholarly journals Audit of the Aetiological Investigations Performed in Children with Sensorineural Hearing Loss At Salford

2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Saud K AlHajeri ◽  
Dr Mohammed Iqbal
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Sensorineural Hearing Loss ◽  
Genetic Counselling ◽  
Gold Standard ◽  
Sensorineural Hearing ◽  
British Association ◽  
Hearing Tests ◽  
Work Up

Objective: This project aims to look at the Audiovestibular Physician’s practice at Salford and how closely it aligns with the gold standard guidelines set in the protocol lately published by the British Association of Audiological Physicians. Method: An audit was done retrospectively on 20 patients suffering from sensorineural hearing loss. As such, patient notes were utilised to ascertain which aetiological investigations have been completed and which were not. Any inadequacy in the aetiological work up has been dissected to help know the underlying reasons. Results: All patients had a thorough history taken and were comprehensively physically examined. 95% of patients underwent imaging in the form of MRI/CT. 80% received CMV testing. 75% underwent ECG testing. 60% received family hearing tests. Only 35% had ophthalmology examinations and 25% underwent urine and genetic testing. Conclusion: In some cases, the low compliance rates were due to the Audiovestibular Physician not ordering the investigation as part of the aetiological work up. This could be improved with the use of a dedicated checklist to act as an aid to the physician. Moreover, genetic counselling has been proposed to attempt to boost the compliance rates with genetic testing and similarly, leaflets briefing patients’ families about the importance of undergoing hearing tests themselves is another promising proposition to help improve the adherence

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