Journal of Otology & RhinologyISSN: 2324-8785

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Case Report, J Otol Rhinol Vol: 4 Issue: 5

Case Series of all three types of Ushers Syndrome of varying severity in the same family

Neha Thakur* and Narendra Rai
Department of Pediatrics, Hind Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
Corresponding author : Dr. Neha Thakur MD
Assistant Professor, Hind Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
Tel: +917607804653
E-mail: [email protected]
Received: August 20, 2015 Accepted: September 17, 2015 Published: September 21, 2015
Citation: Thakur N, Rai N (2015) Case Series of all three types of Ushers Syndrome of varying severity in the same family. J Otol Rhinol 4:5. doi:10.4172/2324-8785.1000251

Abstract

Introduction: Ushers syndrome is an autosomal recessive disorder characterized by hearing loss and visual impairment due to retinitis pigmentosa. There are three types of Ushers syndrome with decreasing order of severity. Type 1 has onset of illness at birth with rapid progression of symptoms. Type 2 has gradual onset of symptoms with moderate hearing loss and later onset of night vision problems. Type 3 is the least severe form with onset of symptoms at late teenage.

Case Series: We report here four siblings with Ushers. The first and second child had clinical symptoms suggestive of type1 Ushers. Third child has clinical features of Type 3 Ushers. Fourth child who had presented to us was having clinical features supportive of type 2 Ushers. There was a family history of similar symptoms in their cousin brother. All the four siblings were product of consanguineous marriage. Their mother was suffering from discoid lupus erythematosus.

Conclusion: Timely diagnosis of Ushers could have decreased the morbidity of these children. Universal Screening for newborn hearing at birth will help in early detection of children with hearing loss and associated syndromes. Cochlear implantation is the only treatment in Ushers and earlier the implantation better is the prognosis. Hence in developing countries like India where genetic diagnosis is not possible most of the times due to financial constraints we can at least implement programs like hearing screening at birth.

Keywords: Night blindness; Hearing loss; Ushers Syndrome

Keywords

Night blindness; Hearing loss; Ushers Syndrome

Introduction

Ushers Syndrome is a genetically heterogeneous condition named after Charles Usher, a British ophthalmologist, characterized by congenital sensorineural hearing loss and retinitis pigmentosa [RP] [1,2]. There are three types of Ushers Syndrome. Type 1 is the most serious type with profound sensorineural hearing loss, absent vestibular function and retinitis pigmentosa. Type 2 is less severe compared to Type 1 with congenital hearing loss, retinitis pigmentosa and some preservation of vestibular function. Type 3 is the least severe form with onset of deafness post lingually and onset of RP in second decade of life. Genetic mutations in Ushers have been identified in 9 genes and 12 different loci. Genetic loci for Usher I has been plotted on chromosomes 14q32, 11q13.5, 11p15.1, 10q22.1, 21q21 and 10p- 22, 17q24-25. Mutations in USH2A gene on chromosome 1q41 is seen in 85% of all cases with Usher II. Only one gene Clarin-1 gene, mapped on 3q21-q25has been linked to Usher III [3].
Retinitis Pigmentosa is the main ophthalmologic feature of Ushers and is common to all the three types. It is an uncommon degenerative disease of retina leading to progressive visual loss and eventual blindness. On retinal examination (both direct and indirect) attenuated blood vessels, waxy pallor, and clumps of dead retinal cells called bone spicules are seen [4]. Usher syndrome is affecting two important sensory systems auditory and visual hence it makes the patient functionally disabled. They have absent vestibular function hence present with developmental delay, hearing loss and night blindness. Nightblindness is usually apparent by 10 years of age. Parents complain that child frequently bumps into objects particularly at night time. Deterioration in visual field and acuity is more pronounced in second decade of life. Eventually these children become blind [4]. There have been case reports of Ushers in western countries but it has not been frequently reported from India particularly in pediatric population and in same family. Mode of inheritance in Ushers Syndrome is autosomal recessive [2]. Hence it requires both parents to be carriers of Ushers Syndrome gene. Therefore with both parents as carriers there are 25% chances of offspring to be diagnosed with Ushers Syndrome. This explains the rarity of having multiple cases of Ushers syndrome in the same family.
Case 1: A 4 year old female child youngest of 6 siblings born to parents having consanguineous marriage presented to us with disorder of balance and night blindness. She had received treatment in the form of valparin and Vitamin A from local physician but there was no improvement in her symptoms. Her parents noticed the disorder of balance and night blindness when she was able to ambulate at the age of one year. She was delivered at term at home with a birth weight of 3 kg. Her mother had not received any antenatal care. There was no history of birth asphyxia or developmental delay. Four sibling of this child had similar symptoms as shown in family tree (Figure 1). Her elder brother and two elder sisters had similar complaints out of which her eldest brother and sister have died. The surviving elder sister has very mild symptoms. She has only one normal brother who is elder to her by two years of age.
Figure 1: Family tree
On audiologic examination by the ENT physician in OPD she had negative caloric test and BERA was suggestive of moderate sensorineural hearing loss. Her neurological examination and developmental assessment (Denver Developmental Scale) was normal. Opthalmologic examination done by ophthalmologist using direct and indirect ophthalmoscopy was suggestive of retinitis pigmentosa. Hematological investigations were normal. MRI Cranium was normal. Nerve conduction velocity and EMG was normal. On the basis of hearing loss and retinitis pigmentosa a diagnosis of Ushers was made. She was advised genetic testing for Ushers but due to financial constraints it could not be done. She was advised hearing aids and yearly evaluation of fundus.
Case 2: Eldest brother of this child had died at the age of 6 years. He was symptomatic from birth with severe disorder of balance, hearing loss and gradual loss of vision. He was evaluated by local physician and advised CT cranium and metabolic screening. His CT cranium and metabolic screen were normal. His symptoms worsened with age and he died at 6 years of age with lung infection. His findings were compatible with Ushers Type 1.
Case 3: Eldest sister second in order in family (Figure 1) had similar complaints. She was symptomatic from infancy with disorder of balance, hearing loss, night blindness and developmental delay. By the age of 2 years she had become severely malnourished, developed secondary infections and died due to septicemia. Her clinical symptoms suggest Type 1 Ushers.
Case 4: The third child (Figure 1) who is now 15 years of age has mild sensorineural hearing loss with decreased field of vision. Her clinical findings support a diagnosis of Ushers Type 3.

Discussion

In this case series we have four siblings in the same family with disorder of balance, hearing loss and night blindness. They have family history of similar ailment in their first degree relative. Mother of these children has been diagnosed with Discoid lupus erythematosus. Out of her 6 children only three are surviving. Eldest son and daughter had the most severe form of Ushers (Type 1). They were symptomatic in infancy with severe disorder of balance, developmental delay, hearing loss and loss of vision. Developmental delay could be explained by absent vestibular function which is a feature of Type 1 Ushers [6]. Both these children died at very early age, due to malnutrition and sepsis. Of the three surviving children the youngest one who presented to us at 4 year of age had onset of illness after 1 year of age. Parents were not complaining of hearing loss but on audiological examination we detected moderate sensorineural hearing loss. Her elder sister has the mildest form of illness. She is asymptomatic but on screening was found to have mild sensorineural hearing loss and decreased field of vision. The other surviving male child is normal.
Sporadic reporting of Ushers is common in western literature. Familial reporting of ushers is infrequent. There have been occasional case reports of siblings with Ushers presenting with psychiatric illness, complete vision loss [7,8]. So far there has not been a single case report of four siblings in the same family with varying severity of Ushers with familial history of similar problem.
The dilemma in these cases was that the diagnosis was missed by multiple physicians. The case who presented to us was being treated as a case of seizure disorder with Vitamin A deficiency. Her elder brother and sister who had clinical features of Ushers Type 1 could have benefitted from early diagnosis. Ushers syndrome has no specific treatment. But we can improve their quality of life by supportive management one of which is cochlear transplant. Cochlear implantation has been found to be beneficial for deaf children with associated disabilities [9]. Retinitis Pigmentosa as such has no definitive treatment. Berson et al. have shown that exercise, diet rich in omega 3 fatty acids and docosahexaenoic acid can be beneficial in patients with retinitis pigmentosa.
Besides early diagnosis of hearing loss can be done through national programs like Universal screening of hearing loss at birth. This is a much debated topic in India with some researchers pointing to early diagnosis of hearing loss at birth will help to utilize the plasticity of developing sensory system [10].
Dual sensory loss vision and audiology is very challenging both for patient and family. The affected children can present either to a pediatrician, ophthalmologist or otorhinolaryngologist. According to the Gallaudet Research Institute, 40% of all children with sensorineural hearing loss will suffer from additional disabling conditions [11]. Hence if we find anyone (deafness or night blindness) we must search for other.

Conclusion

Timely diagnosis of Ushers could have decreased the morbidity of these children. Universal Screening for newborn hearing at birth will help in early detection of children with hearing loss and associated syndromes. Cochlear implantation is the only treatment in Ushers and earlier the implantation better is the prognosis. Hence in developing countries like India where genetic diagnosis is not possible most of the times due to financial constraints we can at least implement programs like hearing screening at birth.

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