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 Table of Contents  
CASE REPORT
Year : 2022  |  Volume : 2  |  Issue : 1  |  Page : 21-22

Bowman's membrane corneal dystrophy in a case of McDonough syndrome: A new association


Department of ophthalmology, Gurunanak Eye Center, Maulana Azad Medical College, New Delhi, India

Date of Submission20-May-2021
Date of Acceptance20-Aug-2021
Date of Web Publication07-Jan-2022

Correspondence Address:
Dr. Abhilasha Sanoria
G-242, Sector 22, Noida - 201 301, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_1249_21

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  Abstract 


Ocular features described as part of the McDonough syndrome include eyelid anomalies like blepharophimosis and ptosis in conjunction with motility defects of the eye with the presence of strabismus. We report a unique case of an 11-year-old child with facial and systemic features characteristic of the McDonough syndrome who presented with decreased vision in both eyes secondary to Bowman's membrane corneal dystrophy. This could represent a new association in the spectrum of the features of the McDonough syndrome or it could even represent a syndrome that has not yet been described. Moreover, it is important to rule out the presence of Bowman's membrane dystrophy as a cause for decreased vision in such patients.

Keywords: Bowman's membrane dystrophy, McDonough syndrome


How to cite this article:
Jain P, Arora R, Sanoria A, Singh AK. Bowman's membrane corneal dystrophy in a case of McDonough syndrome: A new association. Indian J Ophthalmol Case Rep 2022;2:21-2

How to cite this URL:
Jain P, Arora R, Sanoria A, Singh AK. Bowman's membrane corneal dystrophy in a case of McDonough syndrome: A new association. Indian J Ophthalmol Case Rep [serial online] 2022 [cited 2022 Jan 19];2:21-2. Available from: https://www.ijoreports.in/text.asp?2022/2/1/21/334862



McDonough syndrome is a rare syndrome with characteristic systemic and ocular features. In 1975, a family with multiple congenital anomalies/mental retardation (MCA/MR) syndrome was described by Neuhauser and Opitz.[1] The syndrome was reported to consist of MR, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and a congenital heart defect. Three of the five siblings were affected and an autosomal recessive mode of inheritance was suggested. It was denominated as the McDonough syndrome by the authors.[1] Garcia-Sagredo et al.[2] (1984) reported a second family in which two of the three siblings were affected with this syndrome. The ocular features described as part of the McDonough syndrome include eyelid anomalies comprising blepharophimosis and ptosis in conjunction with motility defects of the eye with the presence of strabismus and misalignment of the visual axes of the eyes.[1],[2] We report a new association of Bowman's membrane corneal dystrophy with the McDonough syndrome. Any such association has not been reported previously.


  Case Report Top


An 11-year-old male child (only affected child among three siblings) presented with complaints of drooping of eyelids since birth. The patient had a history of delayed cry at birth with recurrent attacks of pneumonia and upper respiratory tract infections. A history of delay in the attainment of developmental milestones was noted. The patient had a prominent history of frequent attacks of photophobia and watering which resolved spontaneously. The parents had a nonconsanguineous marriage. On systemic examination, the patient weighed 30 kg with a height of 130 cm. The child had MR with an IQ of 50 (on the Stanford-Binet Intelligence Scale). Microcephaly along with prominent supraorbital ridges and midfacial hypoplasia were seen [Figure 1]a and [Figure 1]b. A hanging columella with large, prominent, low-set ears (macrotia) was observed. The presence of maloccluded teeth and synophrys completed the facial features [Figure 1]a and [Figure 1]b. The further systemic evaluation showed an ostium secundum atrial septal defect with a left to right shunt on 2-D echocardiography [Figure 1]d. The skeletal survey revealed a short stature along with spina bifida at the L5-S1 level on X-ray of the dorsal spine [Figure 1]c. The genitourinary examination revealed an undescended testis with a hypoplastic scrotum.
Figure 1: Facial and systemic features of the patient, suggestive of McDonough syndrome. (a and b) Showing facial features of the patient. (c) Showing X-ray of dorsal spine anteroposterior view suggestive of spina bifida at L5-S1 level. (d) Presence of ostium secundum atrial septal defect on 2-D echocardiography

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On eye examination, the patient had a visual acuity of 6/18 (20/63) on Snellen's visual acuity chart in both eyes. Refraction was attempted but no improvement was noted in the patient. A comprehensive ophthalmic examination showed the presence of bilateral ptosis with left eye exotropia in conjunction with bilateral corneal opacities [Figure 1]a and [Figure 2]. These diffuse reticular corneal opacities were present at the level of Bowman's membrane which were confirmed on anterior segment optical coherence tomography (AS-OCT) examination of the patient [Fig. 2a–d]. The parents and siblings of the child were found to have clear corneas. Genetic analysis could not be done as the patient lost to follow-up. To the best of our knowledge, we are the first to report an association of the rare McDonough syndrome with Bowman's membrane dystrophy.
Figure 2: Slit-lamp examination and anterior segment optical coherence tomography (AS-OCT) showing Bowman's membrane corneal dystrophy. (a and b) Slit-lamp examination shows multiple diffuse reticular corneal opacities in both eyes. (c and d) AS-OCT revealed bilateral multiple opacities at the level of Bowman's membrane suggestive of a Bowman's membrane corneal dystrophy

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  Discussion Top


In 1975, Neuhauser and Opitz[1] described a family with MCA/MR syndrome consisting of MR, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and a congenital heart defect, which they denominated as McDonough syndrome. The ocular and systemic findings in our case were characteristic of the McDonough syndrome. The child had MR (IQ: 50), prominent supraorbital ridges, synophrys, ptosis, large nose, strabismus, midfacial hypoplasia, low-set ears (macrotia), maloccluded teeth, ostium secundum atrial septal defect, spina bifida, and cryptorchidism.

Neuhauser and Opitz (1975) suggest autosomal recessive inheritance as being most likely in the family they studied. Three of the five siblings of the said family were affected. The parents were nonconsanguineous and unaffected, and no other relatives were affected. Our report includes three siblings and nonconsanguineous parents. One of the siblings was affected and there were no other cases among the parents and relatives, which would suggest that this family is also compatible with an autosomal recessive inheritance. The conglomeration of these findings including peculiar facial features with characteristic systemic and ocular findings corroborate closely with the rare McDonough syndrome reported by Neuhauser and Optiz [Table 1]. However, no corneal findings have been reported as an association of this syndrome. The unique presence of a Bowman's membrane dystrophy in this patient could, therefore, be a new association that could be added to the spectrum of McDonough syndrome or it could even represent a syndrome that has not yet been described.
Table 1: Summary of findings

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  Conclusion Top


This unusual case adds a significantly defining feature to this rare syndrome. Moreover, it is important to highlight that Bowman's membrane dystrophy should also be ruled out as a cause for decreased vision in such patients.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Neuhäuser G, Opitz JM. Studies of malformation syndromes in man XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father). Z Kinderheilkd 1975;120:231-42.  Back to cited text no. 1
    
2.
García-Sagredo JM, Lozano C, Ferrando P, San Román C. Mentally retarded siblings with congenital heart defect, peculiar facies and cryptorchidism in the male: Possible McDonough syndrome with coincidental (X; 20) translocation. Clin Genet 1984;26:117-24.  Back to cited text no. 2
    


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