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Usher's syndrome: Can primarily be a primary ciliary disorder?

Kulkarni SS, Karkhanis VS, Joshi JM - Lung India (2014)

View Article: PubMed Central - PubMed

Affiliation: Department of Pulmonary Medicine, T. N. Medical College, B.Y.L. Nair Hospital, Mumbai, Maharashtra, India. E-mail: drjoshijm@gmail.com.

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Manifestations include sensory neural hearing loss, vestibular system involvement and progressive loss of vision due to retinitis pigmentosa... Further history-taking elicited a progressive loss of vision and hearing with scholastic backwardness... The patient was born of non-consanguineous marriage without any significant family history... On the basis of clinical history, chest radiography, audiometry and ophthalmoscopy findings patient was diagnosed as a case of Usher syndrome (Type II or III) with bronchiectasis... Usher syndrome is an autosomal recessive disease characterized by congenital deafness, involvement of the vestibular system, and progressive visual loss owing to retinitis pigmentosa... It was further divided by Davenport and Omenn into three clinical sub-types Usher type I (USH1), Usher type II (USH2) and Usher type III (USH3) in order of decreasing severity of deafness and involvement of the vestibular system... Later impaired nasal ciliary beat frequency with no clinical consequences was demonstrated on nasal mucosal brush biopsy in four cases of USH2... Our case is USH2/USH3 with presence of bronchiectasis... In these cases defective development of both the immotile (present in ear and eye) and motile (present in the respiratory epithelium) cilia has been hypothesized... The combined involvement of three sensory systems in Usher can be explained by the shared origin of photoreceptors, the auditory and vestibular hair cells from ciliated progenitor cells... The ultrastructurally defective cilia in the respiratory tract cause impaired mucociliary clearance leading to repeated infections and bronchiectasis as is seen in primary ciliary dyskinesia.

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Fundoscopic findings suggestive of retinitis pigmentosa
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Figure 2: Fundoscopic findings suggestive of retinitis pigmentosa

Mentions: A 20-year-old male patient symptomatic since childhood was presented with history of postural dependant cough with copious expectoration and recurrent rhinosinusitis. For these complaints he had received multiple courses of empirical antituberculous therapy and operated for left lower lobectomy in the past. Further history-taking elicited a progressive loss of vision and hearing with scholastic backwardness. The patient was born of non-consanguineous marriage without any significant family history. Clinical examination and chest radiograph suggested bronchiectasis. Routine blood and biochemistry parameters were normal. High resolution computed tomography-HRCT [Figure 1a and b] confirmed the presence of bronchiectasis in the right middle lobe and lingula with left lower lobectomy status. Audiometry reported bilateral moderately severe mixed hearing loss with normal vestibular function. Ophthalmologic evaluation revealed retinitis pigmentosa [Figure 2]. Mental testing showed social quotient of 38 suggesting moderate retardation in social maturity.


Usher's syndrome: Can primarily be a primary ciliary disorder?

Kulkarni SS, Karkhanis VS, Joshi JM - Lung India (2014)

Fundoscopic findings suggestive of retinitis pigmentosa
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4129612&req=5

Figure 2: Fundoscopic findings suggestive of retinitis pigmentosa
Mentions: A 20-year-old male patient symptomatic since childhood was presented with history of postural dependant cough with copious expectoration and recurrent rhinosinusitis. For these complaints he had received multiple courses of empirical antituberculous therapy and operated for left lower lobectomy in the past. Further history-taking elicited a progressive loss of vision and hearing with scholastic backwardness. The patient was born of non-consanguineous marriage without any significant family history. Clinical examination and chest radiograph suggested bronchiectasis. Routine blood and biochemistry parameters were normal. High resolution computed tomography-HRCT [Figure 1a and b] confirmed the presence of bronchiectasis in the right middle lobe and lingula with left lower lobectomy status. Audiometry reported bilateral moderately severe mixed hearing loss with normal vestibular function. Ophthalmologic evaluation revealed retinitis pigmentosa [Figure 2]. Mental testing showed social quotient of 38 suggesting moderate retardation in social maturity.

View Article: PubMed Central - PubMed

Affiliation: Department of Pulmonary Medicine, T. N. Medical College, B.Y.L. Nair Hospital, Mumbai, Maharashtra, India. E-mail: drjoshijm@gmail.com.

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

Manifestations include sensory neural hearing loss, vestibular system involvement and progressive loss of vision due to retinitis pigmentosa... Further history-taking elicited a progressive loss of vision and hearing with scholastic backwardness... The patient was born of non-consanguineous marriage without any significant family history... On the basis of clinical history, chest radiography, audiometry and ophthalmoscopy findings patient was diagnosed as a case of Usher syndrome (Type II or III) with bronchiectasis... Usher syndrome is an autosomal recessive disease characterized by congenital deafness, involvement of the vestibular system, and progressive visual loss owing to retinitis pigmentosa... It was further divided by Davenport and Omenn into three clinical sub-types Usher type I (USH1), Usher type II (USH2) and Usher type III (USH3) in order of decreasing severity of deafness and involvement of the vestibular system... Later impaired nasal ciliary beat frequency with no clinical consequences was demonstrated on nasal mucosal brush biopsy in four cases of USH2... Our case is USH2/USH3 with presence of bronchiectasis... In these cases defective development of both the immotile (present in ear and eye) and motile (present in the respiratory epithelium) cilia has been hypothesized... The combined involvement of three sensory systems in Usher can be explained by the shared origin of photoreceptors, the auditory and vestibular hair cells from ciliated progenitor cells... The ultrastructurally defective cilia in the respiratory tract cause impaired mucociliary clearance leading to repeated infections and bronchiectasis as is seen in primary ciliary dyskinesia.

No MeSH data available.


Related in: MedlinePlus