Letters to the Editor
Waardenburg Shah syndrome: A rare case from India Sir, This case has been highlighted to describe the role of an ophthalmologist in timely diagnosis of this rare condition so that optimal rehabilitation for vision and treatment for other associated disorders can be done in the patient. Waardenburg syndrome (WS), is a rare hereditary disorder characterized by varying degree of sensorineural hearing loss, iris pigmentary disorders, and disorders in the structures arising from neural crest. It was first described by the Dutch ophthalmologist Petrus Johannes Waardenburg in 1951. Based on genotypic and phenotypic variations, four different types of WS have been described, types I and II are the most common whereas types III (or Klein-WS) and WS type IV (or Waardenburg–Shah syndrome) are rare.[1,2] We hereby describe a rare case of Waardenburg Shah syndrome (WS type IV) from India. Till now, 49 cases of WS type IV have been reported.[3] A 16-year-old girl came to our outpatient department with the complaints of diminution of vision and difference in the color of both eyes. On ocular examination, visual acuity was 20/100 (OU). She was found to have blue colored iris in the OD and normal colored iris in the OS [Figure 1a]. Her horizontal palpebral aperture was smaller in both the eyes (26 mm) along with dystopia canthorum (lateral displacement of
inner canthi) and synophrys (medial eyebrow flare), her innercanthal distance was 36 mm and interpupillary distance was 54 mm. Fundus examination revealed hypopigmented fundus in OD and normal pigmentation in OS [Figure 1b], rest of the examination of anterior and posterior segment was within normal limits in OU. General physical examination revealed slurred speech, hearing loss and broad high nasal root, hypoplasia of alae nasi. Her refraction was +1.25 DS in both eyes; her best-corrected visual acuity was 20/60 in both the eyes. She gave history of frequent vomiting at the time of birth for which she was operated. Her past treatment records revealed Hirschsprung’s disease. Hearing tests revealed Sensori neural hearing loss, there was a history of similar disorder in the mother. A provisional diagnosis of WS type IV was made. There are five major and minor diagnostic criteria for WS. The major criteria are congenital sensorineural hearing loss, pigmentary disturbances of the iris and hair, affected first degree relative, dystopia canthorum (lateral displacement of inner canthi), and W index that exceeds 1.95.[2] The minor criteria are congenital vitiligo, synophrys (medial eyebrow flare), broad high nasal root, hypoplasia of alae nasi, and premature graying of hair. According to this criterion, a person must have two major or one minor criteria to be diagnosed as WS type I, WS type II lacks dystopia canthorum, WS III has associated upper limb defects and type IV has associated Hirschsprungs disease along with above features.[3-5] The index case presented with different colored iris, dystopia canthorum and synophrys, broad nasal root, sensory neural deafness, a similar disorder in the mother and associated Hirschsprung’s disease, her W index was 2.22. On the basis of the above features, a diagnosis of Waardenburg type IV was made.
Meenakshi Wadhwani, Yogesh Kumar Gupta1, Kulbhushan Gangwani2 1
a
Departments of Ophthalmology, RPC, AIIMS, North DMC Medical College and Hindu Rao Hospital, 2 Department of Medicine, R. B. Medical Centre, New Delhi, India Correspondence: Dr. Meenakshi Wadhwani, Department of Ophthalmology, RPC, AIIMS, New Delhi, India. E-mail: [email protected]
References b Figure 1: (a) Color photograph showing brilliant blue iris in right eye (b) Fundus photograph depicting hypopigmented fundus in right eye
74
1.
Arias S. Genetic heterogeneity in the Waardenburg syndrome. Birth Defects Orig Artic Ser 1971;07:87-101.
Oman Journal of Ophthalmology, Vol. 8, No. 1, 2015
Letters to the Editor 2.
3. 4. 5.
Mehta M, Sethi S, Pushker N, Bajaj MS, Ghose S. Delayed presentation of children with Waardenburg syndrome. J Pediatr Ophthalmol Strabismus 2010;47:382-3. Egbalian F. Waardenburg-Shah syndrome; a case report and review of the literature. Iran J Pediatr 2008;18:71-7. Dourmishev AL, Dourmishev LA, Schwartz RA, Janniger CK. Waardenburg syndrome. Int J Dermatol 1999;38:656-63. Nayak CS, Isaacson G. Worldwide distribution of Waardenburg syndrome. Ann Otol Rhinol Laryngol 2003;112:817-20.
Role of total dose and hyperfractionation in reducing risk of radiation-induced optic neuropathy Sir, Radiation-induced optic neuropathy (RION) is one of the most disabling late complications that may occur in patients treated with radiotherapy (RT) for head-and-neck cancer.[1] It is caused by ischemia of the optic nerve. Ischemic optic neuropathy is classified as anterior or posterior depending on the location of the injury. It appeared that altered fractionation might be associated with a lower risk of RION.[1] Fractionation by conventional means is of once daily dose while the hyperfractionation consist of two or more than twice daily dose of RT. Between April 2012 and March 2013, 98 patients (58 M and 40 F) with tumors of the nasopharynx, paranasal sinuses, and nasal cavity were treated with curative intent at our institution. Patients were examined around 1 year after RT completion. Patients were excluded if the optic nerves and optic chiasm were outside the treatment fields or near the field edge, received prior RT to the same site, had any ocular or systemic disease affecting optic disc, are taking chemotherapy, had visual problems before RT that could have contributed to vision loss. 33.67% patients had nasopharyngeal tumors, 33.67% had paranasal sinus neoplasms, 22.44% had nasal cavity lesions, and hard palate malignancies. The histologic distribution is depicted in Table 1. Ophthalmologic evaluation of these patients was done by Ishihara chart, indirect opthalmoscopy, fundus fluorescein angiography, Optical coherence tomography and automated perimetry, irrespective of whether visual problems developed. The primary endpoint of this study was the ophthalmologic diagnosis of RION. This was done by examining (i) hard exudates, cotton wool spots and superficial hemorrhages around the optic disc; (ii) disc edema; (iii) history of head and neck RT received. Exclusion criteria: Patients were excluded if the optic nerves and optic chiasm were outside the treatment fields or near the field edge (the latter making accurate dose calculations difficult), Oman Journal of Ophthalmology, Vol. 8, No. 1, 2015
Access this article online Quick Response Code: Website: www.ojoonline.org DOI: 10.4103/0974-620X.149899
if they had received prior RT to the same site, if they had any ocular or systemic disease affecting optic disc, if they are taking chemotherapy, if they had visual problems before RT that could have contributed to vision loss. Patients who had no evidence of RION but who experienced loss of vision from other causes (e.g. dry eye syndrome) were excluded. Patients who lost vision in one eye but not the other were retained, and the functional eye was evaluated. Out of the 98 patients, nine patients (9%) developed RION in 14 eyes. Out of the nine patients, three patients developed anterior optic neuropathy and six patients posterior optic neuropathy. RION was unilateral in five patients (anterior in two patients and posterior in three patients) and was bilateral in four patients (anterior in one patient and posterior in three patients). The risk of RION according to the total dose, dose/fraction, and the once-versus twice a day fractionation [Table 2]. Of 58 patients treated with once-daily RT, 8 (13.7%) developed RION compared with 1 (2.5%) of 40 patients treated with twice-daily RT. Of the patients treated with once a day RT, the risk of RION increased with the dose per fraction >1.7 Gy. [Table 3] Data pertaining to the risk of developing RION after RT for head-and-neck tumors are relatively limited.[2] The risk of RION increased with age, particularly for those 50 years.[1]
Table 1: Tumor histologic types Histologic type Squamous cell carcinoma Adenoid cystic carcinoma Undifferentiated carcinoma Angiofibroma Soft tissue sarcoma Esthesioneuroblastoma Adenocarcinoma Miscellaneous Melanoma Plasmacytoma Mucoepidermoid carcinoma Osseous/chondroid tumors Transitional cell carcinoma Teratocarcinoma Chemodectoma Neurolemmona Histiocytosis
Patients (%) 49 (50) 9 (9.1) 7 (7.1) 6 (6.1) 5 (5.1) 3 (3.0) 3 (3.0) 7 (7.1) 1 1 1 1 1 1 1 1 1
75
Copyright of Oman Journal of Ophthalmology is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
Waardenburg Shah syndrome: A rare case from India Sir, This case has been highlighted to describe the role of an ophthalmologist in timely diagnosis of this rare condition so that optimal rehabilitation for vision and treatment for other associated disorders can be done in the patient. Waardenburg syndrome (WS), is a rare hereditary disorder characterized by varying degree of sensorineural hearing loss, iris pigmentary disorders, and disorders in the structures arising from neural crest. It was first described by the Dutch ophthalmologist Petrus Johannes Waardenburg in 1951. Based on genotypic and phenotypic variations, four different types of WS have been described, types I and II are the most common whereas types III (or Klein-WS) and WS type IV (or Waardenburg–Shah syndrome) are rare.[1,2] We hereby describe a rare case of Waardenburg Shah syndrome (WS type IV) from India. Till now, 49 cases of WS type IV have been reported.[3] A 16-year-old girl came to our outpatient department with the complaints of diminution of vision and difference in the color of both eyes. On ocular examination, visual acuity was 20/100 (OU). She was found to have blue colored iris in the OD and normal colored iris in the OS [Figure 1a]. Her horizontal palpebral aperture was smaller in both the eyes (26 mm) along with dystopia canthorum (lateral displacement of
inner canthi) and synophrys (medial eyebrow flare), her innercanthal distance was 36 mm and interpupillary distance was 54 mm. Fundus examination revealed hypopigmented fundus in OD and normal pigmentation in OS [Figure 1b], rest of the examination of anterior and posterior segment was within normal limits in OU. General physical examination revealed slurred speech, hearing loss and broad high nasal root, hypoplasia of alae nasi. Her refraction was +1.25 DS in both eyes; her best-corrected visual acuity was 20/60 in both the eyes. She gave history of frequent vomiting at the time of birth for which she was operated. Her past treatment records revealed Hirschsprung’s disease. Hearing tests revealed Sensori neural hearing loss, there was a history of similar disorder in the mother. A provisional diagnosis of WS type IV was made. There are five major and minor diagnostic criteria for WS. The major criteria are congenital sensorineural hearing loss, pigmentary disturbances of the iris and hair, affected first degree relative, dystopia canthorum (lateral displacement of inner canthi), and W index that exceeds 1.95.[2] The minor criteria are congenital vitiligo, synophrys (medial eyebrow flare), broad high nasal root, hypoplasia of alae nasi, and premature graying of hair. According to this criterion, a person must have two major or one minor criteria to be diagnosed as WS type I, WS type II lacks dystopia canthorum, WS III has associated upper limb defects and type IV has associated Hirschsprungs disease along with above features.[3-5] The index case presented with different colored iris, dystopia canthorum and synophrys, broad nasal root, sensory neural deafness, a similar disorder in the mother and associated Hirschsprung’s disease, her W index was 2.22. On the basis of the above features, a diagnosis of Waardenburg type IV was made.
Meenakshi Wadhwani, Yogesh Kumar Gupta1, Kulbhushan Gangwani2 1
a
Departments of Ophthalmology, RPC, AIIMS, North DMC Medical College and Hindu Rao Hospital, 2 Department of Medicine, R. B. Medical Centre, New Delhi, India Correspondence: Dr. Meenakshi Wadhwani, Department of Ophthalmology, RPC, AIIMS, New Delhi, India. E-mail: [email protected]
References b Figure 1: (a) Color photograph showing brilliant blue iris in right eye (b) Fundus photograph depicting hypopigmented fundus in right eye
74
1.
Arias S. Genetic heterogeneity in the Waardenburg syndrome. Birth Defects Orig Artic Ser 1971;07:87-101.
Oman Journal of Ophthalmology, Vol. 8, No. 1, 2015
Letters to the Editor 2.
3. 4. 5.
Mehta M, Sethi S, Pushker N, Bajaj MS, Ghose S. Delayed presentation of children with Waardenburg syndrome. J Pediatr Ophthalmol Strabismus 2010;47:382-3. Egbalian F. Waardenburg-Shah syndrome; a case report and review of the literature. Iran J Pediatr 2008;18:71-7. Dourmishev AL, Dourmishev LA, Schwartz RA, Janniger CK. Waardenburg syndrome. Int J Dermatol 1999;38:656-63. Nayak CS, Isaacson G. Worldwide distribution of Waardenburg syndrome. Ann Otol Rhinol Laryngol 2003;112:817-20.
Role of total dose and hyperfractionation in reducing risk of radiation-induced optic neuropathy Sir, Radiation-induced optic neuropathy (RION) is one of the most disabling late complications that may occur in patients treated with radiotherapy (RT) for head-and-neck cancer.[1] It is caused by ischemia of the optic nerve. Ischemic optic neuropathy is classified as anterior or posterior depending on the location of the injury. It appeared that altered fractionation might be associated with a lower risk of RION.[1] Fractionation by conventional means is of once daily dose while the hyperfractionation consist of two or more than twice daily dose of RT. Between April 2012 and March 2013, 98 patients (58 M and 40 F) with tumors of the nasopharynx, paranasal sinuses, and nasal cavity were treated with curative intent at our institution. Patients were examined around 1 year after RT completion. Patients were excluded if the optic nerves and optic chiasm were outside the treatment fields or near the field edge, received prior RT to the same site, had any ocular or systemic disease affecting optic disc, are taking chemotherapy, had visual problems before RT that could have contributed to vision loss. 33.67% patients had nasopharyngeal tumors, 33.67% had paranasal sinus neoplasms, 22.44% had nasal cavity lesions, and hard palate malignancies. The histologic distribution is depicted in Table 1. Ophthalmologic evaluation of these patients was done by Ishihara chart, indirect opthalmoscopy, fundus fluorescein angiography, Optical coherence tomography and automated perimetry, irrespective of whether visual problems developed. The primary endpoint of this study was the ophthalmologic diagnosis of RION. This was done by examining (i) hard exudates, cotton wool spots and superficial hemorrhages around the optic disc; (ii) disc edema; (iii) history of head and neck RT received. Exclusion criteria: Patients were excluded if the optic nerves and optic chiasm were outside the treatment fields or near the field edge (the latter making accurate dose calculations difficult), Oman Journal of Ophthalmology, Vol. 8, No. 1, 2015
Access this article online Quick Response Code: Website: www.ojoonline.org DOI: 10.4103/0974-620X.149899
if they had received prior RT to the same site, if they had any ocular or systemic disease affecting optic disc, if they are taking chemotherapy, if they had visual problems before RT that could have contributed to vision loss. Patients who had no evidence of RION but who experienced loss of vision from other causes (e.g. dry eye syndrome) were excluded. Patients who lost vision in one eye but not the other were retained, and the functional eye was evaluated. Out of the 98 patients, nine patients (9%) developed RION in 14 eyes. Out of the nine patients, three patients developed anterior optic neuropathy and six patients posterior optic neuropathy. RION was unilateral in five patients (anterior in two patients and posterior in three patients) and was bilateral in four patients (anterior in one patient and posterior in three patients). The risk of RION according to the total dose, dose/fraction, and the once-versus twice a day fractionation [Table 2]. Of 58 patients treated with once-daily RT, 8 (13.7%) developed RION compared with 1 (2.5%) of 40 patients treated with twice-daily RT. Of the patients treated with once a day RT, the risk of RION increased with the dose per fraction >1.7 Gy. [Table 3] Data pertaining to the risk of developing RION after RT for head-and-neck tumors are relatively limited.[2] The risk of RION increased with age, particularly for those 50 years.[1]
Table 1: Tumor histologic types Histologic type Squamous cell carcinoma Adenoid cystic carcinoma Undifferentiated carcinoma Angiofibroma Soft tissue sarcoma Esthesioneuroblastoma Adenocarcinoma Miscellaneous Melanoma Plasmacytoma Mucoepidermoid carcinoma Osseous/chondroid tumors Transitional cell carcinoma Teratocarcinoma Chemodectoma Neurolemmona Histiocytosis
Patients (%) 49 (50) 9 (9.1) 7 (7.1) 6 (6.1) 5 (5.1) 3 (3.0) 3 (3.0) 7 (7.1) 1 1 1 1 1 1 1 1 1
75
Copyright of Oman Journal of Ophthalmology is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
